| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133436766C>A | CA2692368387 | ADAMTS13 | c.1309-63C>A (n.1309-63C>A) c.1216-63C>A (n.1216-63C>A) c.565-63C>A (n.565-63C>A) c.*113-63C>A (n.*113-63C>A) n.974-2600C>A c.*593-63C>A (n.*593-63C>A) n.993-2600C>A c.919-63C>A (n.919-63C>A) c.325-63C>A (n.325-63C>A) c.319-63C>A (n.319-63C>A) c.-27-63C>A (n.-27-63C>A) c.95-63C>A (n.95-63C>A) c.687-8097C>A (n.687-8097C>A) c.1297-63C>A (n.1297-63C>A) n.2534-63C>A n.995-2600C>A | gnomAD v4 |
| 9 | g.133436766C= | CA1882673056 | ADAMTS13 | c.1309-63C= (n.1309-63C=) c.1216-63C= (n.1216-63C=) c.565-63C= (n.565-63C=) c.*113-63C= (n.*113-63C=) n.974-2600C= c.*593-63C= (n.*593-63C=) n.993-2600C= c.919-63C= (n.919-63C=) c.325-63C= (n.325-63C=) c.319-63C= (n.319-63C=) c.-27-63C= (n.-27-63C=) c.95-63C= (n.95-63C=) c.687-8097C= (n.687-8097C=) c.1297-63C= (n.1297-63C=) n.2534-63C= n.995-2600C= | |
| 9 | g.133436766C>G | CA200929439 | ADAMTS13 | c.1309-63C>G (n.1309-63C>G) c.1216-63C>G (n.1216-63C>G) c.565-63C>G (n.565-63C>G) c.*113-63C>G (n.*113-63C>G) n.974-2600C>G c.*593-63C>G (n.*593-63C>G) n.993-2600C>G c.919-63C>G (n.919-63C>G) c.325-63C>G (n.325-63C>G) c.319-63C>G (n.319-63C>G) c.-27-63C>G (n.-27-63C>G) c.95-63C>G (n.95-63C>G) c.687-8097C>G (n.687-8097C>G) c.1297-63C>G (n.1297-63C>G) n.2534-63C>G n.995-2600C>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436766C>T | CA2692368394 | ADAMTS13 | c.1309-63C>T (n.1309-63C>T) c.1216-63C>T (n.1216-63C>T) c.565-63C>T (n.565-63C>T) c.*113-63C>T (n.*113-63C>T) n.974-2600C>T c.*593-63C>T (n.*593-63C>T) n.993-2600C>T c.919-63C>T (n.919-63C>T) c.325-63C>T (n.325-63C>T) c.319-63C>T (n.319-63C>T) c.-27-63C>T (n.-27-63C>T) c.95-63C>T (n.95-63C>T) c.687-8097C>T (n.687-8097C>T) c.1297-63C>T (n.1297-63C>T) n.2534-63C>T n.995-2600C>T | gnomAD v4 |
| 9 | g.133436770_133436794del | CA2692368380 | ADAMTS13 | c.1309-59_1309-35del (n.1309-59_1309-35del) c.1216-59_1216-35del (n.1216-59_1216-35del) c.565-59_565-35del (n.565-59_565-35del) c.*113-59_*113-35del (n.*113-59_*113-35del) n.974-2596_974-2572del c.*593-59_*593-35del (n.*593-59_*593-35del) n.993-2596_993-2572del c.919-59_919-35del (n.919-59_919-35del) c.325-59_325-35del (n.325-59_325-35del) c.319-59_319-35del (n.319-59_319-35del) c.-27-59_-27-35del (n.-27-59_-27-35del) c.95-59_95-35del (n.95-59_95-35del) c.687-8093_687-8069del (n.687-8093_687-8069del) c.1297-59_1297-35del (n.1297-59_1297-35del) n.2534-59_2534-35del n.995-2596_995-2572del | gnomAD v4 |
| 9 | g.133436767C>A | CA2692368416 | ADAMTS13 | c.1309-62C>A (n.1309-62C>A) c.1216-62C>A (n.1216-62C>A) c.565-62C>A (n.565-62C>A) c.*113-62C>A (n.*113-62C>A) n.974-2599C>A c.*593-62C>A (n.*593-62C>A) n.993-2599C>A c.919-62C>A (n.919-62C>A) c.325-62C>A (n.325-62C>A) c.319-62C>A (n.319-62C>A) c.-27-62C>A (n.-27-62C>A) c.95-62C>A (n.95-62C>A) c.687-8096C>A (n.687-8096C>A) c.1297-62C>A (n.1297-62C>A) n.2534-62C>A n.995-2599C>A | gnomAD v4 |
| 9 | g.133436767C>T | CA2692368418 | ADAMTS13 | c.1309-62C>T (n.1309-62C>T) c.1216-62C>T (n.1216-62C>T) c.565-62C>T (n.565-62C>T) c.*113-62C>T (n.*113-62C>T) n.974-2599C>T c.*593-62C>T (n.*593-62C>T) n.993-2599C>T c.919-62C>T (n.919-62C>T) c.325-62C>T (n.325-62C>T) c.319-62C>T (n.319-62C>T) c.-27-62C>T (n.-27-62C>T) c.95-62C>T (n.95-62C>T) c.687-8096C>T (n.687-8096C>T) c.1297-62C>T (n.1297-62C>T) n.2534-62C>T n.995-2599C>T | gnomAD v4 |
| 9 | g.133436768C>A | CA2692368422 | ADAMTS13 | c.1309-61C>A (n.1309-61C>A) c.1216-61C>A (n.1216-61C>A) c.565-61C>A (n.565-61C>A) c.*113-61C>A (n.*113-61C>A) n.974-2598C>A c.*593-61C>A (n.*593-61C>A) n.993-2598C>A c.919-61C>A (n.919-61C>A) c.325-61C>A (n.325-61C>A) c.319-61C>A (n.319-61C>A) c.-27-61C>A (n.-27-61C>A) c.95-61C>A (n.95-61C>A) c.687-8095C>A (n.687-8095C>A) c.1297-61C>A (n.1297-61C>A) n.2534-61C>A n.995-2598C>A | gnomAD v4 |
| 9 | g.133436768C>T | CA2692368424 | ADAMTS13 | c.1309-61C>T (n.1309-61C>T) c.1216-61C>T (n.1216-61C>T) c.565-61C>T (n.565-61C>T) c.*113-61C>T (n.*113-61C>T) n.974-2598C>T c.*593-61C>T (n.*593-61C>T) n.993-2598C>T c.919-61C>T (n.919-61C>T) c.325-61C>T (n.325-61C>T) c.319-61C>T (n.319-61C>T) c.-27-61C>T (n.-27-61C>T) c.95-61C>T (n.95-61C>T) c.687-8095C>T (n.687-8095C>T) c.1297-61C>T (n.1297-61C>T) n.2534-61C>T n.995-2598C>T | gnomAD v4 |
| 9 | g.133436769A= | CA1882673057 | ADAMTS13 | c.1309-60A= (n.1309-60A=) c.1216-60A= (n.1216-60A=) c.565-60A= (n.565-60A=) c.*113-60A= (n.*113-60A=) n.974-2597A= c.*593-60A= (n.*593-60A=) n.993-2597A= c.919-60A= (n.919-60A=) c.325-60A= (n.325-60A=) c.319-60A= (n.319-60A=) c.-27-60A= (n.-27-60A=) c.95-60A= (n.95-60A=) c.687-8094A= (n.687-8094A=) c.1297-60A= (n.1297-60A=) n.2534-60A= n.995-2597A= | |
| 9 | g.133436769A>C | CA2579500356 | ADAMTS13 | c.1309-60A>C (n.1309-60A>C) c.1216-60A>C (n.1216-60A>C) c.565-60A>C (n.565-60A>C) c.*113-60A>C (n.*113-60A>C) n.974-2597A>C c.*593-60A>C (n.*593-60A>C) n.993-2597A>C c.919-60A>C (n.919-60A>C) c.325-60A>C (n.325-60A>C) c.319-60A>C (n.319-60A>C) c.-27-60A>C (n.-27-60A>C) c.95-60A>C (n.95-60A>C) c.687-8094A>C (n.687-8094A>C) c.1297-60A>C (n.1297-60A>C) n.2534-60A>C n.995-2597A>C | gnomAD v4 |
| 9 | g.133436769A>G | CA1882673058 | ADAMTS13 | c.1309-60A>G (n.1309-60A>G) c.1216-60A>G (n.1216-60A>G) c.565-60A>G (n.565-60A>G) c.*113-60A>G (n.*113-60A>G) n.974-2597A>G c.*593-60A>G (n.*593-60A>G) n.993-2597A>G c.919-60A>G (n.919-60A>G) c.325-60A>G (n.325-60A>G) c.319-60A>G (n.319-60A>G) c.-27-60A>G (n.-27-60A>G) c.95-60A>G (n.95-60A>G) c.687-8094A>G (n.687-8094A>G) c.1297-60A>G (n.1297-60A>G) n.2534-60A>G n.995-2597A>G | dbSNP gnomAD v4 |
| 9 | g.133436769A>T | CA2692368431 | ADAMTS13 | c.1309-60A>T (n.1309-60A>T) c.1216-60A>T (n.1216-60A>T) c.565-60A>T (n.565-60A>T) c.*113-60A>T (n.*113-60A>T) n.974-2597A>T c.*593-60A>T (n.*593-60A>T) n.993-2597A>T c.919-60A>T (n.919-60A>T) c.325-60A>T (n.325-60A>T) c.319-60A>T (n.319-60A>T) c.-27-60A>T (n.-27-60A>T) c.95-60A>T (n.95-60A>T) c.687-8094A>T (n.687-8094A>T) c.1297-60A>T (n.1297-60A>T) n.2534-60A>T n.995-2597A>T | gnomAD v4 |
| 9 | g.133436770G>A | CA2692368440 | ADAMTS13 | c.1309-59G>A (n.1309-59G>A) c.1216-59G>A (n.1216-59G>A) c.565-59G>A (n.565-59G>A) c.*113-59G>A (n.*113-59G>A) n.974-2596G>A c.*593-59G>A (n.*593-59G>A) n.993-2596G>A c.919-59G>A (n.919-59G>A) c.325-59G>A (n.325-59G>A) c.319-59G>A (n.319-59G>A) c.-27-59G>A (n.-27-59G>A) c.95-59G>A (n.95-59G>A) c.687-8093G>A (n.687-8093G>A) c.1297-59G>A (n.1297-59G>A) n.2534-59G>A n.995-2596G>A | gnomAD v4 |
| 9 | g.133436770G>C | CA2579500357 | ADAMTS13 | c.1309-59G>C (n.1309-59G>C) c.1216-59G>C (n.1216-59G>C) c.565-59G>C (n.565-59G>C) c.*113-59G>C (n.*113-59G>C) n.974-2596G>C c.*593-59G>C (n.*593-59G>C) n.993-2596G>C c.919-59G>C (n.919-59G>C) c.325-59G>C (n.325-59G>C) c.319-59G>C (n.319-59G>C) c.-27-59G>C (n.-27-59G>C) c.95-59G>C (n.95-59G>C) c.687-8093G>C (n.687-8093G>C) c.1297-59G>C (n.1297-59G>C) n.2534-59G>C n.995-2596G>C | gnomAD v4 |
| 9 | g.133436770G>T | CA2692368442 | ADAMTS13 | c.1309-59G>T (n.1309-59G>T) c.1216-59G>T (n.1216-59G>T) c.565-59G>T (n.565-59G>T) c.*113-59G>T (n.*113-59G>T) n.974-2596G>T c.*593-59G>T (n.*593-59G>T) n.993-2596G>T c.919-59G>T (n.919-59G>T) c.325-59G>T (n.325-59G>T) c.319-59G>T (n.319-59G>T) c.-27-59G>T (n.-27-59G>T) c.95-59G>T (n.95-59G>T) c.687-8093G>T (n.687-8093G>T) c.1297-59G>T (n.1297-59G>T) n.2534-59G>T n.995-2596G>T | gnomAD v4 |
| 9 | g.133436771T>A | CA2692368444 | ADAMTS13 | c.1309-58T>A (n.1309-58T>A) c.1216-58T>A (n.1216-58T>A) c.565-58T>A (n.565-58T>A) c.*113-58T>A (n.*113-58T>A) n.974-2595T>A c.*593-58T>A (n.*593-58T>A) n.993-2595T>A c.919-58T>A (n.919-58T>A) c.325-58T>A (n.325-58T>A) c.319-58T>A (n.319-58T>A) c.-27-58T>A (n.-27-58T>A) c.95-58T>A (n.95-58T>A) c.687-8092T>A (n.687-8092T>A) c.1297-58T>A (n.1297-58T>A) n.2534-58T>A n.995-2595T>A | gnomAD v4 |
| 9 | g.133436771T>C | CA2692368446 | ADAMTS13 | c.1309-58T>C (n.1309-58T>C) c.1216-58T>C (n.1216-58T>C) c.565-58T>C (n.565-58T>C) c.*113-58T>C (n.*113-58T>C) n.974-2595T>C c.*593-58T>C (n.*593-58T>C) n.993-2595T>C c.919-58T>C (n.919-58T>C) c.325-58T>C (n.325-58T>C) c.319-58T>C (n.319-58T>C) c.-27-58T>C (n.-27-58T>C) c.95-58T>C (n.95-58T>C) c.687-8092T>C (n.687-8092T>C) c.1297-58T>C (n.1297-58T>C) n.2534-58T>C n.995-2595T>C | gnomAD v4 |
| 9 | g.133436771T>G | CA860755329 | ADAMTS13 | c.1309-58T>G (n.1309-58T>G) c.1216-58T>G (n.1216-58T>G) c.565-58T>G (n.565-58T>G) c.*113-58T>G (n.*113-58T>G) n.974-2595T>G c.*593-58T>G (n.*593-58T>G) n.993-2595T>G c.919-58T>G (n.919-58T>G) c.325-58T>G (n.325-58T>G) c.319-58T>G (n.319-58T>G) c.-27-58T>G (n.-27-58T>G) c.95-58T>G (n.95-58T>G) c.687-8092T>G (n.687-8092T>G) c.1297-58T>G (n.1297-58T>G) n.2534-58T>G n.995-2595T>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436771T= | CA1882673059 | ADAMTS13 | c.1309-58T= (n.1309-58T=) c.1216-58T= (n.1216-58T=) c.565-58T= (n.565-58T=) c.*113-58T= (n.*113-58T=) n.974-2595T= c.*593-58T= (n.*593-58T=) n.993-2595T= c.919-58T= (n.919-58T=) c.325-58T= (n.325-58T=) c.319-58T= (n.319-58T=) c.-27-58T= (n.-27-58T=) c.95-58T= (n.95-58T=) c.687-8092T= (n.687-8092T=) c.1297-58T= (n.1297-58T=) n.2534-58T= n.995-2595T= | |
| 9 | g.133436772G>A | CA2692368523 | ADAMTS13 | c.1309-57G>A (n.1309-57G>A) c.1216-57G>A (n.1216-57G>A) c.565-57G>A (n.565-57G>A) c.*113-57G>A (n.*113-57G>A) n.974-2594G>A c.*593-57G>A (n.*593-57G>A) n.993-2594G>A c.919-57G>A (n.919-57G>A) c.325-57G>A (n.325-57G>A) c.319-57G>A (n.319-57G>A) c.-27-57G>A (n.-27-57G>A) c.95-57G>A (n.95-57G>A) c.687-8091G>A (n.687-8091G>A) c.1297-57G>A (n.1297-57G>A) n.2534-57G>A n.995-2594G>A | gnomAD v4 |
| 9 | g.133436772G>C | CA2692368524 | ADAMTS13 | c.1309-57G>C (n.1309-57G>C) c.1216-57G>C (n.1216-57G>C) c.565-57G>C (n.565-57G>C) c.*113-57G>C (n.*113-57G>C) n.974-2594G>C c.*593-57G>C (n.*593-57G>C) n.993-2594G>C c.919-57G>C (n.919-57G>C) c.325-57G>C (n.325-57G>C) c.319-57G>C (n.319-57G>C) c.-27-57G>C (n.-27-57G>C) c.95-57G>C (n.95-57G>C) c.687-8091G>C (n.687-8091G>C) c.1297-57G>C (n.1297-57G>C) n.2534-57G>C n.995-2594G>C | gnomAD v4 |
| 9 | g.133436772G>T | CA2692368525 | ADAMTS13 | c.1309-57G>T (n.1309-57G>T) c.1216-57G>T (n.1216-57G>T) c.565-57G>T (n.565-57G>T) c.*113-57G>T (n.*113-57G>T) n.974-2594G>T c.*593-57G>T (n.*593-57G>T) n.993-2594G>T c.919-57G>T (n.919-57G>T) c.325-57G>T (n.325-57G>T) c.319-57G>T (n.319-57G>T) c.-27-57G>T (n.-27-57G>T) c.95-57G>T (n.95-57G>T) c.687-8091G>T (n.687-8091G>T) c.1297-57G>T (n.1297-57G>T) n.2534-57G>T n.995-2594G>T | gnomAD v4 |
| 9 | g.133436772_133436773insCCCAGG | CA2692368552 | ADAMTS13 | c.1309-57_1309-56insCCCAGG (n.1309-57_1309-56insCCCAGG) c.1216-57_1216-56insCCCAGG (n.1216-57_1216-56insCCCAGG) c.565-57_565-56insCCCAGG (n.565-57_565-56insCCCAGG) c.*113-57_*113-56insCCCAGG (n.*113-57_*113-56insCCCAGG) n.974-2594_974-2593insCCCAGG c.*593-57_*593-56insCCCAGG (n.*593-57_*593-56insCCCAGG) n.993-2594_993-2593insCCCAGG c.919-57_919-56insCCCAGG (n.919-57_919-56insCCCAGG) c.325-57_325-56insCCCAGG (n.325-57_325-56insCCCAGG) c.319-57_319-56insCCCAGG (n.319-57_319-56insCCCAGG) c.-27-57_-27-56insCCCAGG (n.-27-57_-27-56insCCCAGG) c.95-57_95-56insCCCAGG (n.95-57_95-56insCCCAGG) c.687-8091_687-8090insCCCAGG (n.687-8091_687-8090insCCCAGG) c.1297-57_1297-56insCCCAGG (n.1297-57_1297-56insCCCAGG) n.2534-57_2534-56insCCCAGG n.995-2594_995-2593insCCCAGG | gnomAD v4 |
| 9 | g.133436772_133436773insCCCAGGGGGGGGGG | CA2692368558 | ADAMTS13 | c.1309-57_1309-56insCCCAGGGGGGGGGG (n.1309-57_1309-56insCCCAGGGGGGGGGG) c.1216-57_1216-56insCCCAGGGGGGGGGG (n.1216-57_1216-56insCCCAGGGGGGGGGG) c.565-57_565-56insCCCAGGGGGGGGGG (n.565-57_565-56insCCCAGGGGGGGGGG) c.*113-57_*113-56insCCCAGGGGGGGGGG (n.*113-57_*113-56insCCCAGGGGGGGGGG) n.974-2594_974-2593insCCCAGGGGGGGGGG c.*593-57_*593-56insCCCAGGGGGGGGGG (n.*593-57_*593-56insCCCAGGGGGGGGGG) n.993-2594_993-2593insCCCAGGGGGGGGGG c.919-57_919-56insCCCAGGGGGGGGGG (n.919-57_919-56insCCCAGGGGGGGGGG) c.325-57_325-56insCCCAGGGGGGGGGG (n.325-57_325-56insCCCAGGGGGGGGGG) c.319-57_319-56insCCCAGGGGGGGGGG (n.319-57_319-56insCCCAGGGGGGGGGG) c.-27-57_-27-56insCCCAGGGGGGGGGG (n.-27-57_-27-56insCCCAGGGGGGGGGG) c.95-57_95-56insCCCAGGGGGGGGGG (n.95-57_95-56insCCCAGGGGGGGGGG) c.687-8091_687-8090insCCCAGGGGGGGGGG (n.687-8091_687-8090insCCCAGGGGGGGGGG) c.1297-57_1297-56insCCCAGGGGGGGGGG (n.1297-57_1297-56insCCCAGGGGGGGGGG) n.2534-57_2534-56insCCCAGGGGGGGGGG n.995-2594_995-2593insCCCAGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436772_133436773insCCCAGGGGGGGGGGG | CA2786169501 | ADAMTS13 | c.1309-57_1309-56insCCCAGGGGGGGGGGG (n.1309-57_1309-56insCCCAGGGGGGGGGGG) c.1216-57_1216-56insCCCAGGGGGGGGGGG (n.1216-57_1216-56insCCCAGGGGGGGGGGG) c.565-57_565-56insCCCAGGGGGGGGGGG (n.565-57_565-56insCCCAGGGGGGGGGGG) c.*113-57_*113-56insCCCAGGGGGGGGGGG (n.*113-57_*113-56insCCCAGGGGGGGGGGG) n.974-2594_974-2593insCCCAGGGGGGGGGGG c.*593-57_*593-56insCCCAGGGGGGGGGGG (n.*593-57_*593-56insCCCAGGGGGGGGGGG) n.993-2594_993-2593insCCCAGGGGGGGGGGG c.919-57_919-56insCCCAGGGGGGGGGGG (n.919-57_919-56insCCCAGGGGGGGGGGG) c.325-57_325-56insCCCAGGGGGGGGGGG (n.325-57_325-56insCCCAGGGGGGGGGGG) c.319-57_319-56insCCCAGGGGGGGGGGG (n.319-57_319-56insCCCAGGGGGGGGGGG) c.-27-57_-27-56insCCCAGGGGGGGGGGG (n.-27-57_-27-56insCCCAGGGGGGGGGGG) c.95-57_95-56insCCCAGGGGGGGGGGG (n.95-57_95-56insCCCAGGGGGGGGGGG) c.687-8091_687-8090insCCCAGGGGGGGGGGG (n.687-8091_687-8090insCCCAGGGGGGGGGGG) c.1297-57_1297-56insCCCAGGGGGGGGGGG (n.1297-57_1297-56insCCCAGGGGGGGGGGG) n.2534-57_2534-56insCCCAGGGGGGGGGGG n.995-2594_995-2593insCCCAGGGGGGGGGGG | |
| 9 | g.133436772_133436773insCCCGGGGGGGGGGGGGGGG | CA2692368521 | ADAMTS13 | c.1309-57_1309-56insCCCGGGGGGGGGGGGGGGG (n.1309-57_1309-56insCCCGGGGGGGGGGGGGGGG) c.1216-57_1216-56insCCCGGGGGGGGGGGGGGGG (n.1216-57_1216-56insCCCGGGGGGGGGGGGGGGG) c.565-57_565-56insCCCGGGGGGGGGGGGGGGG (n.565-57_565-56insCCCGGGGGGGGGGGGGGGG) c.*113-57_*113-56insCCCGGGGGGGGGGGGGGGG (n.*113-57_*113-56insCCCGGGGGGGGGGGGGGGG) n.974-2594_974-2593insCCCGGGGGGGGGGGGGGGG c.*593-57_*593-56insCCCGGGGGGGGGGGGGGGG (n.*593-57_*593-56insCCCGGGGGGGGGGGGGGGG) n.993-2594_993-2593insCCCGGGGGGGGGGGGGGGG c.919-57_919-56insCCCGGGGGGGGGGGGGGGG (n.919-57_919-56insCCCGGGGGGGGGGGGGGGG) c.325-57_325-56insCCCGGGGGGGGGGGGGGGG (n.325-57_325-56insCCCGGGGGGGGGGGGGGGG) c.319-57_319-56insCCCGGGGGGGGGGGGGGGG (n.319-57_319-56insCCCGGGGGGGGGGGGGGGG) c.-27-57_-27-56insCCCGGGGGGGGGGGGGGGG (n.-27-57_-27-56insCCCGGGGGGGGGGGGGGGG) c.95-57_95-56insCCCGGGGGGGGGGGGGGGG (n.95-57_95-56insCCCGGGGGGGGGGGGGGGG) c.687-8091_687-8090insCCCGGGGGGGGGGGGGGGG (n.687-8091_687-8090insCCCGGGGGGGGGGGGGGGG) c.1297-57_1297-56insCCCGGGGGGGGGGGGGGGG (n.1297-57_1297-56insCCCGGGGGGGGGGGGGGGG) n.2534-57_2534-56insCCCGGGGGGGGGGGGGGGG n.995-2594_995-2593insCCCGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436772_133436773insCCCCGGGGGGGGGGGGGGGGG | CA2692368595 | ADAMTS13 | c.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGG (n.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGG) c.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGG (n.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGG) c.565-57_565-56insCCCCGGGGGGGGGGGGGGGGG (n.565-57_565-56insCCCCGGGGGGGGGGGGGGGGG) c.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGG (n.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGG) n.974-2594_974-2593insCCCCGGGGGGGGGGGGGGGGG c.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGG (n.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGG) n.993-2594_993-2593insCCCCGGGGGGGGGGGGGGGGG c.919-57_919-56insCCCCGGGGGGGGGGGGGGGGG (n.919-57_919-56insCCCCGGGGGGGGGGGGGGGGG) c.325-57_325-56insCCCCGGGGGGGGGGGGGGGGG (n.325-57_325-56insCCCCGGGGGGGGGGGGGGGGG) c.319-57_319-56insCCCCGGGGGGGGGGGGGGGGG (n.319-57_319-56insCCCCGGGGGGGGGGGGGGGGG) c.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGG (n.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGG) c.95-57_95-56insCCCCGGGGGGGGGGGGGGGGG (n.95-57_95-56insCCCCGGGGGGGGGGGGGGGGG) c.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGG (n.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGG) c.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGG (n.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGG) n.2534-57_2534-56insCCCCGGGGGGGGGGGGGGGGG n.995-2594_995-2593insCCCCGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436772_133436773insCCCCGGGGGGGGGGGGGGGGGG | CA2692368602 | ADAMTS13 | c.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGG (n.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGG) c.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGG (n.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGG) c.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGG (n.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGG) c.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGG (n.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGG) n.974-2594_974-2593insCCCCGGGGGGGGGGGGGGGGGG c.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGG (n.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGG) n.993-2594_993-2593insCCCCGGGGGGGGGGGGGGGGGG c.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGG (n.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGG) c.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGG (n.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGG) c.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGG (n.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGG) c.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGG (n.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGG) c.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGG (n.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGG) c.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGG (n.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGG) c.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGG (n.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGG) n.2534-57_2534-56insCCCCGGGGGGGGGGGGGGGGGG n.995-2594_995-2593insCCCCGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436772_133436773insCCCCGGGGGGGGGGGGGGGGGGGGGGG | CA2692368603 | ADAMTS13 | c.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGGGGGGG (n.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGGGGGGG) c.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGGGGGGG (n.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGGGGGGG) c.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGGGGGGG (n.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGGGGGGG) c.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGGGGGGG (n.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGGGGGGG) n.974-2594_974-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGG c.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGGGGGGG (n.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGGGGGGG) n.993-2594_993-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGG c.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGGGGGGG (n.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGGGGGGG) c.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGGGGGGG (n.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGGGGGGG) c.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGGGGGGG (n.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGGGGGGG) c.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGGGGGGG (n.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGGGGGGG) c.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGGGGGGG (n.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGGGGGGG) c.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGGGGGGG (n.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGGGGGGG) c.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGGGGGGG (n.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGGGGGGG) n.2534-57_2534-56insCCCCGGGGGGGGGGGGGGGGGGGGGGG n.995-2594_995-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436772_133436773insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692368565 | ADAMTS13 | c.1309-57_1309-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-57_1309-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-57_1216-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-57_1216-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-57_565-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-57_565-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-57_*113-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-57_*113-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2594_974-2593insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-57_*593-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-57_*593-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2594_993-2593insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-57_919-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-57_919-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-57_325-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-57_325-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-57_319-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-57_319-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-57_-27-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-57_-27-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-57_95-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-57_95-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8091_687-8090insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8091_687-8090insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-57_1297-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-57_1297-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-57_2534-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2594_995-2593insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436772_133436773insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692368548 | ADAMTS13 | c.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2594_974-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2594_993-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-57_2534-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2594_995-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436772_133436773insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692368515 | ADAMTS13 | c.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2594_974-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2594_993-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-57_2534-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2594_995-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436772_133436773insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692368529 | ADAMTS13 | c.1309-57_1309-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-57_1309-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-57_1216-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-57_1216-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-57_565-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-57_565-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-57_*113-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-57_*113-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2594_974-2593insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-57_*593-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-57_*593-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2594_993-2593insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-57_919-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-57_919-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-57_325-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-57_325-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-57_319-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-57_319-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-57_-27-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-57_-27-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-57_95-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-57_95-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8091_687-8090insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8091_687-8090insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-57_1297-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-57_1297-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-57_2534-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2594_995-2593insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436772_133436773insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692368472 | ADAMTS13 | c.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2594_974-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2594_993-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-57_2534-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2594_995-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436772_133436773insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692368475 | ADAMTS13 | c.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2594_974-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2594_993-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-57_2534-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2594_995-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436772_133436773insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG | CA2692368561 | ADAMTS13 | c.1309-57_1309-56insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG (n.1309-57_1309-56insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG) c.1216-57_1216-56insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG (n.1216-57_1216-56insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG) c.565-57_565-56insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG (n.565-57_565-56insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG) c.*113-57_*113-56insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG (n.*113-57_*113-56insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG) n.974-2594_974-2593insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG c.*593-57_*593-56insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG (n.*593-57_*593-56insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG) n.993-2594_993-2593insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG c.919-57_919-56insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG (n.919-57_919-56insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG) c.325-57_325-56insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG (n.325-57_325-56insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG) c.319-57_319-56insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG (n.319-57_319-56insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG) c.-27-57_-27-56insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG (n.-27-57_-27-56insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG) c.95-57_95-56insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG (n.95-57_95-56insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG) c.687-8091_687-8090insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG (n.687-8091_687-8090insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG) c.1297-57_1297-56insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG (n.1297-57_1297-56insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG) n.2534-57_2534-56insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG n.995-2594_995-2593insCCCAGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436772_133436773insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692368571 | ADAMTS13 | c.1309-57_1309-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-57_1309-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-57_1216-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-57_1216-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-57_565-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-57_565-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-57_*113-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-57_*113-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2594_974-2593insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-57_*593-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-57_*593-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2594_993-2593insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-57_919-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-57_919-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-57_325-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-57_325-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-57_319-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-57_319-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-57_-27-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-57_-27-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-57_95-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-57_95-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8091_687-8090insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8091_687-8090insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-57_1297-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-57_1297-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-57_2534-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2594_995-2593insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436772_133436773insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692368477 | ADAMTS13 | c.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2594_974-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2594_993-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-57_2534-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2594_995-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436772_133436773insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692368507 | ADAMTS13 | c.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2594_974-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2594_993-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-57_2534-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2594_995-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436772_133436773insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692368575 | ADAMTS13 | c.1309-57_1309-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-57_1309-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-57_1216-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-57_1216-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-57_565-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-57_565-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-57_*113-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-57_*113-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2594_974-2593insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-57_*593-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-57_*593-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2594_993-2593insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-57_919-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-57_919-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-57_325-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-57_325-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-57_319-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-57_319-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-57_-27-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-57_-27-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-57_95-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-57_95-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8091_687-8090insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8091_687-8090insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-57_1297-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-57_1297-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-57_2534-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2594_995-2593insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436772_133436773insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692368510 | ADAMTS13 | c.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2594_974-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2594_993-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-57_2534-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2594_995-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436772_133436773insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692368471 | ADAMTS13 | c.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2594_974-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2594_993-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-57_2534-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2594_995-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436772_133436773insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692368516 | ADAMTS13 | c.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2594_974-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2594_993-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-57_2534-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2594_995-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436772_133436773insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2786169502 | ADAMTS13 | c.1309-57_1309-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-57_1309-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-57_1216-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-57_1216-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-57_565-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-57_565-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-57_*113-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-57_*113-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2594_974-2593insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-57_*593-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-57_*593-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2594_993-2593insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-57_919-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-57_919-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-57_325-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-57_325-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-57_319-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-57_319-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-57_-27-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-57_-27-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-57_95-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-57_95-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8091_687-8090insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8091_687-8090insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-57_1297-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-57_1297-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-57_2534-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2594_995-2593insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | |
| 9 | g.133436772_133436773insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692368582 | ADAMTS13 | c.1309-57_1309-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-57_1309-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-57_1216-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-57_1216-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-57_565-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-57_565-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-57_*113-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-57_*113-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2594_974-2593insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-57_*593-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-57_*593-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2594_993-2593insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-57_919-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-57_919-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-57_325-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-57_325-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-57_319-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-57_319-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-57_-27-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-57_-27-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-57_95-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-57_95-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8091_687-8090insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8091_687-8090insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-57_1297-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-57_1297-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-57_2534-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2594_995-2593insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436772_133436773insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692368517 | ADAMTS13 | c.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2594_974-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2594_993-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-57_2534-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2594_995-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436772_133436773insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692368585 | ADAMTS13 | c.1309-57_1309-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-57_1309-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-57_1216-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-57_1216-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-57_565-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-57_565-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-57_*113-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-57_*113-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2594_974-2593insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-57_*593-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-57_*593-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2594_993-2593insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-57_919-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-57_919-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-57_325-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-57_325-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-57_319-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-57_319-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-57_-27-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-57_-27-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-57_95-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-57_95-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8091_687-8090insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8091_687-8090insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-57_1297-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-57_1297-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-57_2534-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2594_995-2593insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436772_133436773insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692368520 | ADAMTS13 | c.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2594_974-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2594_993-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-57_2534-56insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2594_995-2593insCCCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436772_133436773insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692368588 | ADAMTS13 | c.1309-57_1309-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-57_1309-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-57_1216-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-57_1216-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-57_565-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-57_565-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-57_*113-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-57_*113-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2594_974-2593insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-57_*593-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-57_*593-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2594_993-2593insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-57_919-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-57_919-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-57_325-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-57_325-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-57_319-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-57_319-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-57_-27-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-57_-27-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-57_95-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-57_95-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8091_687-8090insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8091_687-8090insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-57_1297-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-57_1297-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-57_2534-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2594_995-2593insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436772_133436773insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692368590 | ADAMTS13 | c.1309-57_1309-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-57_1309-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-57_1216-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-57_1216-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-57_565-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-57_565-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-57_*113-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-57_*113-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2594_974-2593insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-57_*593-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-57_*593-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2594_993-2593insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-57_919-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-57_919-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-57_325-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-57_325-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-57_319-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-57_319-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-57_-27-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-57_-27-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-57_95-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-57_95-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8091_687-8090insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8091_687-8090insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-57_1297-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-57_1297-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-57_2534-56insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2594_995-2593insCCCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436773_133436782del | CA2692368522 | ADAMTS13 | c.1309-56_1309-47del (n.1309-56_1309-47del) c.1216-56_1216-47del (n.1216-56_1216-47del) c.565-56_565-47del (n.565-56_565-47del) c.*113-56_*113-47del (n.*113-56_*113-47del) n.974-2593_974-2584del c.*593-56_*593-47del (n.*593-56_*593-47del) n.993-2593_993-2584del c.919-56_919-47del (n.919-56_919-47del) c.325-56_325-47del (n.325-56_325-47del) c.319-56_319-47del (n.319-56_319-47del) c.-27-56_-27-47del (n.-27-56_-27-47del) c.95-56_95-47del (n.95-56_95-47del) c.687-8090_687-8081del (n.687-8090_687-8081del) c.1297-56_1297-47del (n.1297-56_1297-47del) n.2534-56_2534-47del n.995-2593_995-2584del | gnomAD v4 |
| 9 | g.133436773del | CA2692368650 | ADAMTS13 | c.1309-56del (n.1309-56del) c.1216-56del (n.1216-56del) c.565-56del (n.565-56del) c.*113-56del (n.*113-56del) n.974-2593del c.*593-56del (n.*593-56del) n.993-2593del c.919-56del (n.919-56del) c.325-56del (n.325-56del) c.319-56del (n.319-56del) c.-27-56del (n.-27-56del) c.95-56del (n.95-56del) c.687-8090del (n.687-8090del) c.1297-56del (n.1297-56del) n.2534-56del n.995-2593del | gnomAD v4 |
| 9 | g.133436773A= | CA1882673060 | ADAMTS13 | c.1309-56A= (n.1309-56A=) c.1216-56A= (n.1216-56A=) c.565-56A= (n.565-56A=) c.*113-56A= (n.*113-56A=) n.974-2593A= c.*593-56A= (n.*593-56A=) n.993-2593A= c.919-56A= (n.919-56A=) c.325-56A= (n.325-56A=) c.319-56A= (n.319-56A=) c.-27-56A= (n.-27-56A=) c.95-56A= (n.95-56A=) c.687-8090A= (n.687-8090A=) c.1297-56A= (n.1297-56A=) n.2534-56A= n.995-2593A= | |
| 9 | g.133436773A>C | CA2692368629 | ADAMTS13 | c.1309-56A>C (n.1309-56A>C) c.1216-56A>C (n.1216-56A>C) c.565-56A>C (n.565-56A>C) c.*113-56A>C (n.*113-56A>C) n.974-2593A>C c.*593-56A>C (n.*593-56A>C) n.993-2593A>C c.919-56A>C (n.919-56A>C) c.325-56A>C (n.325-56A>C) c.319-56A>C (n.319-56A>C) c.-27-56A>C (n.-27-56A>C) c.95-56A>C (n.95-56A>C) c.687-8090A>C (n.687-8090A>C) c.1297-56A>C (n.1297-56A>C) n.2534-56A>C n.995-2593A>C | gnomAD v4 |
| 9 | g.133436773A>G | CA860755332 | ADAMTS13 | c.1309-56A>G (n.1309-56A>G) c.1216-56A>G (n.1216-56A>G) c.565-56A>G (n.565-56A>G) c.*113-56A>G (n.*113-56A>G) n.974-2593A>G c.*593-56A>G (n.*593-56A>G) n.993-2593A>G c.919-56A>G (n.919-56A>G) c.325-56A>G (n.325-56A>G) c.319-56A>G (n.319-56A>G) c.-27-56A>G (n.-27-56A>G) c.95-56A>G (n.95-56A>G) c.687-8090A>G (n.687-8090A>G) c.1297-56A>G (n.1297-56A>G) n.2534-56A>G n.995-2593A>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436773A>T | CA2692368625 | ADAMTS13 | c.1309-56A>T (n.1309-56A>T) c.1216-56A>T (n.1216-56A>T) c.565-56A>T (n.565-56A>T) c.*113-56A>T (n.*113-56A>T) n.974-2593A>T c.*593-56A>T (n.*593-56A>T) n.993-2593A>T c.919-56A>T (n.919-56A>T) c.325-56A>T (n.325-56A>T) c.319-56A>T (n.319-56A>T) c.-27-56A>T (n.-27-56A>T) c.95-56A>T (n.95-56A>T) c.687-8090A>T (n.687-8090A>T) c.1297-56A>T (n.1297-56A>T) n.2534-56A>T n.995-2593A>T | gnomAD v4 |
| 9 | g.133436773_133436778del | CA2692368645 | ADAMTS13 | c.1309-56_1309-51del (n.1309-56_1309-51del) c.1216-56_1216-51del (n.1216-56_1216-51del) c.565-56_565-51del (n.565-56_565-51del) c.*113-56_*113-51del (n.*113-56_*113-51del) n.974-2593_974-2588del c.*593-56_*593-51del (n.*593-56_*593-51del) n.993-2593_993-2588del c.919-56_919-51del (n.919-56_919-51del) c.325-56_325-51del (n.325-56_325-51del) c.319-56_319-51del (n.319-56_319-51del) c.-27-56_-27-51del (n.-27-56_-27-51del) c.95-56_95-51del (n.95-56_95-51del) c.687-8090_687-8085del (n.687-8090_687-8085del) c.1297-56_1297-51del (n.1297-56_1297-51del) n.2534-56_2534-51del n.995-2593_995-2588del | gnomAD v4 |
| 9 | g.133436776_133436778del | CA2692368649 | ADAMTS13 | c.1309-53_1309-51del (n.1309-53_1309-51del) c.1216-53_1216-51del (n.1216-53_1216-51del) c.565-53_565-51del (n.565-53_565-51del) c.*113-53_*113-51del (n.*113-53_*113-51del) n.974-2590_974-2588del c.*593-53_*593-51del (n.*593-53_*593-51del) n.993-2590_993-2588del c.919-53_919-51del (n.919-53_919-51del) c.325-53_325-51del (n.325-53_325-51del) c.319-53_319-51del (n.319-53_319-51del) c.-27-53_-27-51del (n.-27-53_-27-51del) c.95-53_95-51del (n.95-53_95-51del) c.687-8087_687-8085del (n.687-8087_687-8085del) c.1297-53_1297-51del (n.1297-53_1297-51del) n.2534-53_2534-51del n.995-2590_995-2588del | gnomAD v4 |
| 9 | g.133436775_133436779del | CA2692368646 | ADAMTS13 | c.1309-54_1309-50del (n.1309-54_1309-50del) c.1216-54_1216-50del (n.1216-54_1216-50del) c.565-54_565-50del (n.565-54_565-50del) c.*113-54_*113-50del (n.*113-54_*113-50del) n.974-2591_974-2587del c.*593-54_*593-50del (n.*593-54_*593-50del) n.993-2591_993-2587del c.919-54_919-50del (n.919-54_919-50del) c.325-54_325-50del (n.325-54_325-50del) c.319-54_319-50del (n.319-54_319-50del) c.-27-54_-27-50del (n.-27-54_-27-50del) c.95-54_95-50del (n.95-54_95-50del) c.687-8088_687-8084del (n.687-8088_687-8084del) c.1297-54_1297-50del (n.1297-54_1297-50del) n.2534-54_2534-50del n.995-2591_995-2587del | gnomAD v4 |
| 9 | g.133436773_133436781del | CA2692368619 | ADAMTS13 | c.1309-56_1309-48del (n.1309-56_1309-48del) c.1216-56_1216-48del (n.1216-56_1216-48del) c.565-56_565-48del (n.565-56_565-48del) c.*113-56_*113-48del (n.*113-56_*113-48del) n.974-2593_974-2585del c.*593-56_*593-48del (n.*593-56_*593-48del) n.993-2593_993-2585del c.919-56_919-48del (n.919-56_919-48del) c.325-56_325-48del (n.325-56_325-48del) c.319-56_319-48del (n.319-56_319-48del) c.-27-56_-27-48del (n.-27-56_-27-48del) c.95-56_95-48del (n.95-56_95-48del) c.687-8090_687-8082del (n.687-8090_687-8082del) c.1297-56_1297-48del (n.1297-56_1297-48del) n.2534-56_2534-48del n.995-2593_995-2585del | gnomAD v4 |
| 9 | g.133436773_133436783del | CA2692368652 | ADAMTS13 | c.1309-56_1309-46del (n.1309-56_1309-46del) c.1216-56_1216-46del (n.1216-56_1216-46del) c.565-56_565-46del (n.565-56_565-46del) c.*113-56_*113-46del (n.*113-56_*113-46del) n.974-2593_974-2583del c.*593-56_*593-46del (n.*593-56_*593-46del) n.993-2593_993-2583del c.919-56_919-46del (n.919-56_919-46del) c.325-56_325-46del (n.325-56_325-46del) c.319-56_319-46del (n.319-56_319-46del) c.-27-56_-27-46del (n.-27-56_-27-46del) c.95-56_95-46del (n.95-56_95-46del) c.687-8090_687-8080del (n.687-8090_687-8080del) c.1297-56_1297-46del (n.1297-56_1297-46del) n.2534-56_2534-46del n.995-2593_995-2583del | gnomAD v4 |
| 9 | g.133436773_133436784del | CA2692368644 | ADAMTS13 | c.1309-56_1309-45del (n.1309-56_1309-45del) c.1216-56_1216-45del (n.1216-56_1216-45del) c.565-56_565-45del (n.565-56_565-45del) c.*113-56_*113-45del (n.*113-56_*113-45del) n.974-2593_974-2582del c.*593-56_*593-45del (n.*593-56_*593-45del) n.993-2593_993-2582del c.919-56_919-45del (n.919-56_919-45del) c.325-56_325-45del (n.325-56_325-45del) c.319-56_319-45del (n.319-56_319-45del) c.-27-56_-27-45del (n.-27-56_-27-45del) c.95-56_95-45del (n.95-56_95-45del) c.687-8090_687-8079del (n.687-8090_687-8079del) c.1297-56_1297-45del (n.1297-56_1297-45del) n.2534-56_2534-45del n.995-2593_995-2582del | gnomAD v4 |
| 9 | g.133436774C>A | CA1882673062 | ADAMTS13 | c.1309-55C>A (n.1309-55C>A) c.1216-55C>A (n.1216-55C>A) c.565-55C>A (n.565-55C>A) c.*113-55C>A (n.*113-55C>A) n.974-2592C>A c.*593-55C>A (n.*593-55C>A) n.993-2592C>A c.919-55C>A (n.919-55C>A) c.325-55C>A (n.325-55C>A) c.319-55C>A (n.319-55C>A) c.-27-55C>A (n.-27-55C>A) c.95-55C>A (n.95-55C>A) c.687-8089C>A (n.687-8089C>A) c.1297-55C>A (n.1297-55C>A) n.2534-55C>A n.995-2592C>A | dbSNP gnomAD v4 |
| 9 | g.133436774C= | CA1882673061 | ADAMTS13 | c.1309-55C= (n.1309-55C=) c.1216-55C= (n.1216-55C=) c.565-55C= (n.565-55C=) c.*113-55C= (n.*113-55C=) n.974-2592C= c.*593-55C= (n.*593-55C=) n.993-2592C= c.919-55C= (n.919-55C=) c.325-55C= (n.325-55C=) c.319-55C= (n.319-55C=) c.-27-55C= (n.-27-55C=) c.95-55C= (n.95-55C=) c.687-8089C= (n.687-8089C=) c.1297-55C= (n.1297-55C=) n.2534-55C= n.995-2592C= | |
| 9 | g.133436774C>T | CA860755333 | ADAMTS13 | c.1309-55C>T (n.1309-55C>T) c.1216-55C>T (n.1216-55C>T) c.565-55C>T (n.565-55C>T) c.*113-55C>T (n.*113-55C>T) n.974-2592C>T c.*593-55C>T (n.*593-55C>T) n.993-2592C>T c.919-55C>T (n.919-55C>T) c.325-55C>T (n.325-55C>T) c.319-55C>T (n.319-55C>T) c.-27-55C>T (n.-27-55C>T) c.95-55C>T (n.95-55C>T) c.687-8089C>T (n.687-8089C>T) c.1297-55C>T (n.1297-55C>T) n.2534-55C>T n.995-2592C>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436775_133436821del | CA2692368659 | ADAMTS13 | c.1309-54_1309-8del (n.1309-54_1309-8del) c.1216-54_1216-8del (n.1216-54_1216-8del) c.565-54_565-8del (n.565-54_565-8del) c.*113-54_*113-8del (n.*113-54_*113-8del) n.974-2591_974-2545del c.*593-54_*593-8del (n.*593-54_*593-8del) n.993-2591_993-2545del c.919-54_919-8del (n.919-54_919-8del) c.325-54_325-8del (n.325-54_325-8del) c.319-54_319-8del (n.319-54_319-8del) c.-27-54_-27-8del (n.-27-54_-27-8del) c.95-54_95-8del (n.95-54_95-8del) c.687-8088_687-8042del (n.687-8088_687-8042del) c.1297-54_1297-8del (n.1297-54_1297-8del) n.2534-54_2534-8del n.995-2591_995-2545del | gnomAD v4 |
| 9 | g.133436775_133436825del | CA2692368660 | ADAMTS13 | c.1309-54_1309-4del (n.1309-54_1309-4del) c.1216-54_1216-4del (n.1216-54_1216-4del) c.565-54_565-4del (n.565-54_565-4del) c.*113-54_*113-4del (n.*113-54_*113-4del) n.974-2591_974-2541del c.*593-54_*593-4del (n.*593-54_*593-4del) n.993-2591_993-2541del c.919-54_919-4del (n.919-54_919-4del) c.325-54_325-4del (n.325-54_325-4del) c.319-54_319-4del (n.319-54_319-4del) c.-27-54_-27-4del (n.-27-54_-27-4del) c.95-54_95-4del (n.95-54_95-4del) c.687-8088_687-8038del (n.687-8088_687-8038del) c.1297-54_1297-4del (n.1297-54_1297-4del) n.2534-54_2534-4del n.995-2591_995-2541del | gnomAD v4 |
| 9 | g.133436775A= | CA1882673063 | ADAMTS13 | c.1309-54A= (n.1309-54A=) c.1216-54A= (n.1216-54A=) c.565-54A= (n.565-54A=) c.*113-54A= (n.*113-54A=) n.974-2591A= c.*593-54A= (n.*593-54A=) n.993-2591A= c.919-54A= (n.919-54A=) c.325-54A= (n.325-54A=) c.319-54A= (n.319-54A=) c.-27-54A= (n.-27-54A=) c.95-54A= (n.95-54A=) c.687-8088A= (n.687-8088A=) c.1297-54A= (n.1297-54A=) n.2534-54A= n.995-2591A= | |
| 9 | g.133436775A>C | CA2692368703 | ADAMTS13 | c.1309-54A>C (n.1309-54A>C) c.1216-54A>C (n.1216-54A>C) c.565-54A>C (n.565-54A>C) c.*113-54A>C (n.*113-54A>C) n.974-2591A>C c.*593-54A>C (n.*593-54A>C) n.993-2591A>C c.919-54A>C (n.919-54A>C) c.325-54A>C (n.325-54A>C) c.319-54A>C (n.319-54A>C) c.-27-54A>C (n.-27-54A>C) c.95-54A>C (n.95-54A>C) c.687-8088A>C (n.687-8088A>C) c.1297-54A>C (n.1297-54A>C) n.2534-54A>C n.995-2591A>C | gnomAD v4 |
| 9 | g.133436775A>G | CA200929443 | ADAMTS13 | c.1309-54A>G (n.1309-54A>G) c.1216-54A>G (n.1216-54A>G) c.565-54A>G (n.565-54A>G) c.*113-54A>G (n.*113-54A>G) n.974-2591A>G c.*593-54A>G (n.*593-54A>G) n.993-2591A>G c.919-54A>G (n.919-54A>G) c.325-54A>G (n.325-54A>G) c.319-54A>G (n.319-54A>G) c.-27-54A>G (n.-27-54A>G) c.95-54A>G (n.95-54A>G) c.687-8088A>G (n.687-8088A>G) c.1297-54A>G (n.1297-54A>G) n.2534-54A>G n.995-2591A>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436775A>T | CA2692368700 | ADAMTS13 | c.1309-54A>T (n.1309-54A>T) c.1216-54A>T (n.1216-54A>T) c.565-54A>T (n.565-54A>T) c.*113-54A>T (n.*113-54A>T) n.974-2591A>T c.*593-54A>T (n.*593-54A>T) n.993-2591A>T c.919-54A>T (n.919-54A>T) c.325-54A>T (n.325-54A>T) c.319-54A>T (n.319-54A>T) c.-27-54A>T (n.-27-54A>T) c.95-54A>T (n.95-54A>T) c.687-8088A>T (n.687-8088A>T) c.1297-54A>T (n.1297-54A>T) n.2534-54A>T n.995-2591A>T | gnomAD v4 |
| 9 | g.133436775_133436776del | CA2692368699 | ADAMTS13 | c.1309-54_1309-53del (n.1309-54_1309-53del) c.1216-54_1216-53del (n.1216-54_1216-53del) c.565-54_565-53del (n.565-54_565-53del) c.*113-54_*113-53del (n.*113-54_*113-53del) n.974-2591_974-2590del c.*593-54_*593-53del (n.*593-54_*593-53del) n.993-2591_993-2590del c.919-54_919-53del (n.919-54_919-53del) c.325-54_325-53del (n.325-54_325-53del) c.319-54_319-53del (n.319-54_319-53del) c.-27-54_-27-53del (n.-27-54_-27-53del) c.95-54_95-53del (n.95-54_95-53del) c.687-8088_687-8087del (n.687-8088_687-8087del) c.1297-54_1297-53del (n.1297-54_1297-53del) n.2534-54_2534-53del n.995-2591_995-2590del | gnomAD v4 |
| 9 | g.133436775_133436778del | CA2692368705 | ADAMTS13 | c.1309-54_1309-51del (n.1309-54_1309-51del) c.1216-54_1216-51del (n.1216-54_1216-51del) c.565-54_565-51del (n.565-54_565-51del) c.*113-54_*113-51del (n.*113-54_*113-51del) n.974-2591_974-2588del c.*593-54_*593-51del (n.*593-54_*593-51del) n.993-2591_993-2588del c.919-54_919-51del (n.919-54_919-51del) c.325-54_325-51del (n.325-54_325-51del) c.319-54_319-51del (n.319-54_319-51del) c.-27-54_-27-51del (n.-27-54_-27-51del) c.95-54_95-51del (n.95-54_95-51del) c.687-8088_687-8085del (n.687-8088_687-8085del) c.1297-54_1297-51del (n.1297-54_1297-51del) n.2534-54_2534-51del n.995-2591_995-2588del | gnomAD v4 |
| 9 | g.133436776A>C | CA1129743456 | ADAMTS13 | c.1309-53A>C (n.1309-53A>C) c.1216-53A>C (n.1216-53A>C) c.565-53A>C (n.565-53A>C) c.*113-53A>C (n.*113-53A>C) n.974-2590A>C c.*593-53A>C (n.*593-53A>C) n.993-2590A>C c.919-53A>C (n.919-53A>C) c.325-53A>C (n.325-53A>C) c.319-53A>C (n.319-53A>C) c.-27-53A>C (n.-27-53A>C) c.95-53A>C (n.95-53A>C) c.687-8087A>C (n.687-8087A>C) c.1297-53A>C (n.1297-53A>C) n.2534-53A>C n.995-2590A>C | gnomAD v3 gnomAD v4 |
| 9 | g.133436776A>G | CA2692368711 | ADAMTS13 | c.1309-53A>G (n.1309-53A>G) c.1216-53A>G (n.1216-53A>G) c.565-53A>G (n.565-53A>G) c.*113-53A>G (n.*113-53A>G) n.974-2590A>G c.*593-53A>G (n.*593-53A>G) n.993-2590A>G c.919-53A>G (n.919-53A>G) c.325-53A>G (n.325-53A>G) c.319-53A>G (n.319-53A>G) c.-27-53A>G (n.-27-53A>G) c.95-53A>G (n.95-53A>G) c.687-8087A>G (n.687-8087A>G) c.1297-53A>G (n.1297-53A>G) n.2534-53A>G n.995-2590A>G | gnomAD v4 |
| 9 | g.133436776A>T | CA2692368710 | ADAMTS13 | c.1309-53A>T (n.1309-53A>T) c.1216-53A>T (n.1216-53A>T) c.565-53A>T (n.565-53A>T) c.*113-53A>T (n.*113-53A>T) n.974-2590A>T c.*593-53A>T (n.*593-53A>T) n.993-2590A>T c.919-53A>T (n.919-53A>T) c.325-53A>T (n.325-53A>T) c.319-53A>T (n.319-53A>T) c.-27-53A>T (n.-27-53A>T) c.95-53A>T (n.95-53A>T) c.687-8087A>T (n.687-8087A>T) c.1297-53A>T (n.1297-53A>T) n.2534-53A>T n.995-2590A>T | gnomAD v4 |
| 9 | g.133436776_133436779del | CA2692368715 | ADAMTS13 | c.1309-53_1309-50del (n.1309-53_1309-50del) c.1216-53_1216-50del (n.1216-53_1216-50del) c.565-53_565-50del (n.565-53_565-50del) c.*113-53_*113-50del (n.*113-53_*113-50del) n.974-2590_974-2587del c.*593-53_*593-50del (n.*593-53_*593-50del) n.993-2590_993-2587del c.919-53_919-50del (n.919-53_919-50del) c.325-53_325-50del (n.325-53_325-50del) c.319-53_319-50del (n.319-53_319-50del) c.-27-53_-27-50del (n.-27-53_-27-50del) c.95-53_95-50del (n.95-53_95-50del) c.687-8087_687-8084del (n.687-8087_687-8084del) c.1297-53_1297-50del (n.1297-53_1297-50del) n.2534-53_2534-50del n.995-2590_995-2587del | gnomAD v4 |
| 9 | g.133436778_133436779dup | CA2692368716 | ADAMTS13 | c.1309-51_1309-50dup (n.1309-51_1309-50dup) c.1216-51_1216-50dup (n.1216-51_1216-50dup) c.565-51_565-50dup (n.565-51_565-50dup) c.*113-51_*113-50dup (n.*113-51_*113-50dup) n.974-2588_974-2587dup c.*593-51_*593-50dup (n.*593-51_*593-50dup) n.993-2588_993-2587dup c.919-51_919-50dup (n.919-51_919-50dup) c.325-51_325-50dup (n.325-51_325-50dup) c.319-51_319-50dup (n.319-51_319-50dup) c.-27-51_-27-50dup (n.-27-51_-27-50dup) c.95-51_95-50dup (n.95-51_95-50dup) c.687-8085_687-8084dup (n.687-8085_687-8084dup) c.1297-51_1297-50dup (n.1297-51_1297-50dup) n.2534-51_2534-50dup n.995-2588_995-2587dup | gnomAD v4 |
| 9 | g.133436778_133436779del | CA2692368709 | ADAMTS13 | c.1309-51_1309-50del (n.1309-51_1309-50del) c.1216-51_1216-50del (n.1216-51_1216-50del) c.565-51_565-50del (n.565-51_565-50del) c.*113-51_*113-50del (n.*113-51_*113-50del) n.974-2588_974-2587del c.*593-51_*593-50del (n.*593-51_*593-50del) n.993-2588_993-2587del c.919-51_919-50del (n.919-51_919-50del) c.325-51_325-50del (n.325-51_325-50del) c.319-51_319-50del (n.319-51_319-50del) c.-27-51_-27-50del (n.-27-51_-27-50del) c.95-51_95-50del (n.95-51_95-50del) c.687-8085_687-8084del (n.687-8085_687-8084del) c.1297-51_1297-50del (n.1297-51_1297-50del) n.2534-51_2534-50del n.995-2588_995-2587del | gnomAD v4 |
| 9 | g.133436776_133436780del | CA2692368713 | ADAMTS13 | c.1309-53_1309-49del (n.1309-53_1309-49del) c.1216-53_1216-49del (n.1216-53_1216-49del) c.565-53_565-49del (n.565-53_565-49del) c.*113-53_*113-49del (n.*113-53_*113-49del) n.974-2590_974-2586del c.*593-53_*593-49del (n.*593-53_*593-49del) n.993-2590_993-2586del c.919-53_919-49del (n.919-53_919-49del) c.325-53_325-49del (n.325-53_325-49del) c.319-53_319-49del (n.319-53_319-49del) c.-27-53_-27-49del (n.-27-53_-27-49del) c.95-53_95-49del (n.95-53_95-49del) c.687-8087_687-8083del (n.687-8087_687-8083del) c.1297-53_1297-49del (n.1297-53_1297-49del) n.2534-53_2534-49del n.995-2590_995-2586del | gnomAD v4 |
| 9 | g.133436776_133436777insGGG | CA2692369422 | ADAMTS13 | c.1309-53_1309-52insGGG (n.1309-53_1309-52insGGG) c.1216-53_1216-52insGGG (n.1216-53_1216-52insGGG) c.565-53_565-52insGGG (n.565-53_565-52insGGG) c.*113-53_*113-52insGGG (n.*113-53_*113-52insGGG) n.974-2590_974-2589insGGG c.*593-53_*593-52insGGG (n.*593-53_*593-52insGGG) n.993-2590_993-2589insGGG c.919-53_919-52insGGG (n.919-53_919-52insGGG) c.325-53_325-52insGGG (n.325-53_325-52insGGG) c.319-53_319-52insGGG (n.319-53_319-52insGGG) c.-27-53_-27-52insGGG (n.-27-53_-27-52insGGG) c.95-53_95-52insGGG (n.95-53_95-52insGGG) c.687-8087_687-8086insGGG (n.687-8087_687-8086insGGG) c.1297-53_1297-52insGGG (n.1297-53_1297-52insGGG) n.2534-53_2534-52insGGG n.995-2590_995-2589insGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGG | CA2692369430 | ADAMTS13 | c.1309-53_1309-52insGGGG (n.1309-53_1309-52insGGGG) c.1216-53_1216-52insGGGG (n.1216-53_1216-52insGGGG) c.565-53_565-52insGGGG (n.565-53_565-52insGGGG) c.*113-53_*113-52insGGGG (n.*113-53_*113-52insGGGG) n.974-2590_974-2589insGGGG c.*593-53_*593-52insGGGG (n.*593-53_*593-52insGGGG) n.993-2590_993-2589insGGGG c.919-53_919-52insGGGG (n.919-53_919-52insGGGG) c.325-53_325-52insGGGG (n.325-53_325-52insGGGG) c.319-53_319-52insGGGG (n.319-53_319-52insGGGG) c.-27-53_-27-52insGGGG (n.-27-53_-27-52insGGGG) c.95-53_95-52insGGGG (n.95-53_95-52insGGGG) c.687-8087_687-8086insGGGG (n.687-8087_687-8086insGGGG) c.1297-53_1297-52insGGGG (n.1297-53_1297-52insGGGG) n.2534-53_2534-52insGGGG n.995-2590_995-2589insGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGG | CA2692369663 | ADAMTS13 | c.1309-53_1309-52insGGGGGG (n.1309-53_1309-52insGGGGGG) c.1216-53_1216-52insGGGGGG (n.1216-53_1216-52insGGGGGG) c.565-53_565-52insGGGGGG (n.565-53_565-52insGGGGGG) c.*113-53_*113-52insGGGGGG (n.*113-53_*113-52insGGGGGG) n.974-2590_974-2589insGGGGGG c.*593-53_*593-52insGGGGGG (n.*593-53_*593-52insGGGGGG) n.993-2590_993-2589insGGGGGG c.919-53_919-52insGGGGGG (n.919-53_919-52insGGGGGG) c.325-53_325-52insGGGGGG (n.325-53_325-52insGGGGGG) c.319-53_319-52insGGGGGG (n.319-53_319-52insGGGGGG) c.-27-53_-27-52insGGGGGG (n.-27-53_-27-52insGGGGGG) c.95-53_95-52insGGGGGG (n.95-53_95-52insGGGGGG) c.687-8087_687-8086insGGGGGG (n.687-8087_687-8086insGGGGGG) c.1297-53_1297-52insGGGGGG (n.1297-53_1297-52insGGGGGG) n.2534-53_2534-52insGGGGGG n.995-2590_995-2589insGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGCGG | CA2692369433 | ADAMTS13 | c.1309-53_1309-52insGGGGCGG (n.1309-53_1309-52insGGGGCGG) c.1216-53_1216-52insGGGGCGG (n.1216-53_1216-52insGGGGCGG) c.565-53_565-52insGGGGCGG (n.565-53_565-52insGGGGCGG) c.*113-53_*113-52insGGGGCGG (n.*113-53_*113-52insGGGGCGG) n.974-2590_974-2589insGGGGCGG c.*593-53_*593-52insGGGGCGG (n.*593-53_*593-52insGGGGCGG) n.993-2590_993-2589insGGGGCGG c.919-53_919-52insGGGGCGG (n.919-53_919-52insGGGGCGG) c.325-53_325-52insGGGGCGG (n.325-53_325-52insGGGGCGG) c.319-53_319-52insGGGGCGG (n.319-53_319-52insGGGGCGG) c.-27-53_-27-52insGGGGCGG (n.-27-53_-27-52insGGGGCGG) c.95-53_95-52insGGGGCGG (n.95-53_95-52insGGGGCGG) c.687-8087_687-8086insGGGGCGG (n.687-8087_687-8086insGGGGCGG) c.1297-53_1297-52insGGGGCGG (n.1297-53_1297-52insGGGGCGG) n.2534-53_2534-52insGGGGCGG n.995-2590_995-2589insGGGGCGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGG | CA2692369669 | ADAMTS13 | c.1309-53_1309-52insGGGGGGG (n.1309-53_1309-52insGGGGGGG) c.1216-53_1216-52insGGGGGGG (n.1216-53_1216-52insGGGGGGG) c.565-53_565-52insGGGGGGG (n.565-53_565-52insGGGGGGG) c.*113-53_*113-52insGGGGGGG (n.*113-53_*113-52insGGGGGGG) n.974-2590_974-2589insGGGGGGG c.*593-53_*593-52insGGGGGGG (n.*593-53_*593-52insGGGGGGG) n.993-2590_993-2589insGGGGGGG c.919-53_919-52insGGGGGGG (n.919-53_919-52insGGGGGGG) c.325-53_325-52insGGGGGGG (n.325-53_325-52insGGGGGGG) c.319-53_319-52insGGGGGGG (n.319-53_319-52insGGGGGGG) c.-27-53_-27-52insGGGGGGG (n.-27-53_-27-52insGGGGGGG) c.95-53_95-52insGGGGGGG (n.95-53_95-52insGGGGGGG) c.687-8087_687-8086insGGGGGGG (n.687-8087_687-8086insGGGGGGG) c.1297-53_1297-52insGGGGGGG (n.1297-53_1297-52insGGGGGGG) n.2534-53_2534-52insGGGGGGG n.995-2590_995-2589insGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGCGGG | CA2692369434 | ADAMTS13 | c.1309-53_1309-52insGGGGCGGG (n.1309-53_1309-52insGGGGCGGG) c.1216-53_1216-52insGGGGCGGG (n.1216-53_1216-52insGGGGCGGG) c.565-53_565-52insGGGGCGGG (n.565-53_565-52insGGGGCGGG) c.*113-53_*113-52insGGGGCGGG (n.*113-53_*113-52insGGGGCGGG) n.974-2590_974-2589insGGGGCGGG c.*593-53_*593-52insGGGGCGGG (n.*593-53_*593-52insGGGGCGGG) n.993-2590_993-2589insGGGGCGGG c.919-53_919-52insGGGGCGGG (n.919-53_919-52insGGGGCGGG) c.325-53_325-52insGGGGCGGG (n.325-53_325-52insGGGGCGGG) c.319-53_319-52insGGGGCGGG (n.319-53_319-52insGGGGCGGG) c.-27-53_-27-52insGGGGCGGG (n.-27-53_-27-52insGGGGCGGG) c.95-53_95-52insGGGGCGGG (n.95-53_95-52insGGGGCGGG) c.687-8087_687-8086insGGGGCGGG (n.687-8087_687-8086insGGGGCGGG) c.1297-53_1297-52insGGGGCGGG (n.1297-53_1297-52insGGGGCGGG) n.2534-53_2534-52insGGGGCGGG n.995-2590_995-2589insGGGGCGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGC | CA2692369677 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGC (n.1309-53_1309-52insGGGGGGGC) c.1216-53_1216-52insGGGGGGGC (n.1216-53_1216-52insGGGGGGGC) c.565-53_565-52insGGGGGGGC (n.565-53_565-52insGGGGGGGC) c.*113-53_*113-52insGGGGGGGC (n.*113-53_*113-52insGGGGGGGC) n.974-2590_974-2589insGGGGGGGC c.*593-53_*593-52insGGGGGGGC (n.*593-53_*593-52insGGGGGGGC) n.993-2590_993-2589insGGGGGGGC c.919-53_919-52insGGGGGGGC (n.919-53_919-52insGGGGGGGC) c.325-53_325-52insGGGGGGGC (n.325-53_325-52insGGGGGGGC) c.319-53_319-52insGGGGGGGC (n.319-53_319-52insGGGGGGGC) c.-27-53_-27-52insGGGGGGGC (n.-27-53_-27-52insGGGGGGGC) c.95-53_95-52insGGGGGGGC (n.95-53_95-52insGGGGGGGC) c.687-8087_687-8086insGGGGGGGC (n.687-8087_687-8086insGGGGGGGC) c.1297-53_1297-52insGGGGGGGC (n.1297-53_1297-52insGGGGGGGC) n.2534-53_2534-52insGGGGGGGC n.995-2590_995-2589insGGGGGGGC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGG | CA2692369692 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGG (n.1309-53_1309-52insGGGGGGGG) c.1216-53_1216-52insGGGGGGGG (n.1216-53_1216-52insGGGGGGGG) c.565-53_565-52insGGGGGGGG (n.565-53_565-52insGGGGGGGG) c.*113-53_*113-52insGGGGGGGG (n.*113-53_*113-52insGGGGGGGG) n.974-2590_974-2589insGGGGGGGG c.*593-53_*593-52insGGGGGGGG (n.*593-53_*593-52insGGGGGGGG) n.993-2590_993-2589insGGGGGGGG c.919-53_919-52insGGGGGGGG (n.919-53_919-52insGGGGGGGG) c.325-53_325-52insGGGGGGGG (n.325-53_325-52insGGGGGGGG) c.319-53_319-52insGGGGGGGG (n.319-53_319-52insGGGGGGGG) c.-27-53_-27-52insGGGGGGGG (n.-27-53_-27-52insGGGGGGGG) c.95-53_95-52insGGGGGGGG (n.95-53_95-52insGGGGGGGG) c.687-8087_687-8086insGGGGGGGG (n.687-8087_687-8086insGGGGGGGG) c.1297-53_1297-52insGGGGGGGG (n.1297-53_1297-52insGGGGGGGG) n.2534-53_2534-52insGGGGGGGG n.995-2590_995-2589insGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGCGGGGGGG | CA2692369421 | ADAMTS13 | c.1309-53_1309-52insGCGGGGGGG (n.1309-53_1309-52insGCGGGGGGG) c.1216-53_1216-52insGCGGGGGGG (n.1216-53_1216-52insGCGGGGGGG) c.565-53_565-52insGCGGGGGGG (n.565-53_565-52insGCGGGGGGG) c.*113-53_*113-52insGCGGGGGGG (n.*113-53_*113-52insGCGGGGGGG) n.974-2590_974-2589insGCGGGGGGG c.*593-53_*593-52insGCGGGGGGG (n.*593-53_*593-52insGCGGGGGGG) n.993-2590_993-2589insGCGGGGGGG c.919-53_919-52insGCGGGGGGG (n.919-53_919-52insGCGGGGGGG) c.325-53_325-52insGCGGGGGGG (n.325-53_325-52insGCGGGGGGG) c.319-53_319-52insGCGGGGGGG (n.319-53_319-52insGCGGGGGGG) c.-27-53_-27-52insGCGGGGGGG (n.-27-53_-27-52insGCGGGGGGG) c.95-53_95-52insGCGGGGGGG (n.95-53_95-52insGCGGGGGGG) c.687-8087_687-8086insGCGGGGGGG (n.687-8087_687-8086insGCGGGGGGG) c.1297-53_1297-52insGCGGGGGGG (n.1297-53_1297-52insGCGGGGGGG) n.2534-53_2534-52insGCGGGGGGG n.995-2590_995-2589insGCGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGCGGGGGG | CA2786169535 | ADAMTS13 | c.1309-53_1309-52insGGCGGGGGG (n.1309-53_1309-52insGGCGGGGGG) c.1216-53_1216-52insGGCGGGGGG (n.1216-53_1216-52insGGCGGGGGG) c.565-53_565-52insGGCGGGGGG (n.565-53_565-52insGGCGGGGGG) c.*113-53_*113-52insGGCGGGGGG (n.*113-53_*113-52insGGCGGGGGG) n.974-2590_974-2589insGGCGGGGGG c.*593-53_*593-52insGGCGGGGGG (n.*593-53_*593-52insGGCGGGGGG) n.993-2590_993-2589insGGCGGGGGG c.919-53_919-52insGGCGGGGGG (n.919-53_919-52insGGCGGGGGG) c.325-53_325-52insGGCGGGGGG (n.325-53_325-52insGGCGGGGGG) c.319-53_319-52insGGCGGGGGG (n.319-53_319-52insGGCGGGGGG) c.-27-53_-27-52insGGCGGGGGG (n.-27-53_-27-52insGGCGGGGGG) c.95-53_95-52insGGCGGGGGG (n.95-53_95-52insGGCGGGGGG) c.687-8087_687-8086insGGCGGGGGG (n.687-8087_687-8086insGGCGGGGGG) c.1297-53_1297-52insGGCGGGGGG (n.1297-53_1297-52insGGCGGGGGG) n.2534-53_2534-52insGGCGGGGGG n.995-2590_995-2589insGGCGGGGGG | |
| 9 | g.133436776_133436777insGGGCGGGGG | CA2692369423 | ADAMTS13 | c.1309-53_1309-52insGGGCGGGGG (n.1309-53_1309-52insGGGCGGGGG) c.1216-53_1216-52insGGGCGGGGG (n.1216-53_1216-52insGGGCGGGGG) c.565-53_565-52insGGGCGGGGG (n.565-53_565-52insGGGCGGGGG) c.*113-53_*113-52insGGGCGGGGG (n.*113-53_*113-52insGGGCGGGGG) n.974-2590_974-2589insGGGCGGGGG c.*593-53_*593-52insGGGCGGGGG (n.*593-53_*593-52insGGGCGGGGG) n.993-2590_993-2589insGGGCGGGGG c.919-53_919-52insGGGCGGGGG (n.919-53_919-52insGGGCGGGGG) c.325-53_325-52insGGGCGGGGG (n.325-53_325-52insGGGCGGGGG) c.319-53_319-52insGGGCGGGGG (n.319-53_319-52insGGGCGGGGG) c.-27-53_-27-52insGGGCGGGGG (n.-27-53_-27-52insGGGCGGGGG) c.95-53_95-52insGGGCGGGGG (n.95-53_95-52insGGGCGGGGG) c.687-8087_687-8086insGGGCGGGGG (n.687-8087_687-8086insGGGCGGGGG) c.1297-53_1297-52insGGGCGGGGG (n.1297-53_1297-52insGGGCGGGGG) n.2534-53_2534-52insGGGCGGGGG n.995-2590_995-2589insGGGCGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGCGGGG | CA2692369417 | ADAMTS13 | c.1309-53_1309-52insGGGGCGGGG (n.1309-53_1309-52insGGGGCGGGG) c.1216-53_1216-52insGGGGCGGGG (n.1216-53_1216-52insGGGGCGGGG) c.565-53_565-52insGGGGCGGGG (n.565-53_565-52insGGGGCGGGG) c.*113-53_*113-52insGGGGCGGGG (n.*113-53_*113-52insGGGGCGGGG) n.974-2590_974-2589insGGGGCGGGG c.*593-53_*593-52insGGGGCGGGG (n.*593-53_*593-52insGGGGCGGGG) n.993-2590_993-2589insGGGGCGGGG c.919-53_919-52insGGGGCGGGG (n.919-53_919-52insGGGGCGGGG) c.325-53_325-52insGGGGCGGGG (n.325-53_325-52insGGGGCGGGG) c.319-53_319-52insGGGGCGGGG (n.319-53_319-52insGGGGCGGGG) c.-27-53_-27-52insGGGGCGGGG (n.-27-53_-27-52insGGGGCGGGG) c.95-53_95-52insGGGGCGGGG (n.95-53_95-52insGGGGCGGGG) c.687-8087_687-8086insGGGGCGGGG (n.687-8087_687-8086insGGGGCGGGG) c.1297-53_1297-52insGGGGCGGGG (n.1297-53_1297-52insGGGGCGGGG) n.2534-53_2534-52insGGGGCGGGG n.995-2590_995-2589insGGGGCGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGCGG | CA2692369623 | ADAMTS13 | c.1309-53_1309-52insGGGGGGCGG (n.1309-53_1309-52insGGGGGGCGG) c.1216-53_1216-52insGGGGGGCGG (n.1216-53_1216-52insGGGGGGCGG) c.565-53_565-52insGGGGGGCGG (n.565-53_565-52insGGGGGGCGG) c.*113-53_*113-52insGGGGGGCGG (n.*113-53_*113-52insGGGGGGCGG) n.974-2590_974-2589insGGGGGGCGG c.*593-53_*593-52insGGGGGGCGG (n.*593-53_*593-52insGGGGGGCGG) n.993-2590_993-2589insGGGGGGCGG c.919-53_919-52insGGGGGGCGG (n.919-53_919-52insGGGGGGCGG) c.325-53_325-52insGGGGGGCGG (n.325-53_325-52insGGGGGGCGG) c.319-53_319-52insGGGGGGCGG (n.319-53_319-52insGGGGGGCGG) c.-27-53_-27-52insGGGGGGCGG (n.-27-53_-27-52insGGGGGGCGG) c.95-53_95-52insGGGGGGCGG (n.95-53_95-52insGGGGGGCGG) c.687-8087_687-8086insGGGGGGCGG (n.687-8087_687-8086insGGGGGGCGG) c.1297-53_1297-52insGGGGGGCGG (n.1297-53_1297-52insGGGGGGCGG) n.2534-53_2534-52insGGGGGGCGG n.995-2590_995-2589insGGGGGGCGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGCC | CA2692369682 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGCC (n.1309-53_1309-52insGGGGGGGCC) c.1216-53_1216-52insGGGGGGGCC (n.1216-53_1216-52insGGGGGGGCC) c.565-53_565-52insGGGGGGGCC (n.565-53_565-52insGGGGGGGCC) c.*113-53_*113-52insGGGGGGGCC (n.*113-53_*113-52insGGGGGGGCC) n.974-2590_974-2589insGGGGGGGCC c.*593-53_*593-52insGGGGGGGCC (n.*593-53_*593-52insGGGGGGGCC) n.993-2590_993-2589insGGGGGGGCC c.919-53_919-52insGGGGGGGCC (n.919-53_919-52insGGGGGGGCC) c.325-53_325-52insGGGGGGGCC (n.325-53_325-52insGGGGGGGCC) c.319-53_319-52insGGGGGGGCC (n.319-53_319-52insGGGGGGGCC) c.-27-53_-27-52insGGGGGGGCC (n.-27-53_-27-52insGGGGGGGCC) c.95-53_95-52insGGGGGGGCC (n.95-53_95-52insGGGGGGGCC) c.687-8087_687-8086insGGGGGGGCC (n.687-8087_687-8086insGGGGGGGCC) c.1297-53_1297-52insGGGGGGGCC (n.1297-53_1297-52insGGGGGGGCC) n.2534-53_2534-52insGGGGGGGCC n.995-2590_995-2589insGGGGGGGCC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGCG | CA2692369685 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGCG (n.1309-53_1309-52insGGGGGGGCG) c.1216-53_1216-52insGGGGGGGCG (n.1216-53_1216-52insGGGGGGGCG) c.565-53_565-52insGGGGGGGCG (n.565-53_565-52insGGGGGGGCG) c.*113-53_*113-52insGGGGGGGCG (n.*113-53_*113-52insGGGGGGGCG) n.974-2590_974-2589insGGGGGGGCG c.*593-53_*593-52insGGGGGGGCG (n.*593-53_*593-52insGGGGGGGCG) n.993-2590_993-2589insGGGGGGGCG c.919-53_919-52insGGGGGGGCG (n.919-53_919-52insGGGGGGGCG) c.325-53_325-52insGGGGGGGCG (n.325-53_325-52insGGGGGGGCG) c.319-53_319-52insGGGGGGGCG (n.319-53_319-52insGGGGGGGCG) c.-27-53_-27-52insGGGGGGGCG (n.-27-53_-27-52insGGGGGGGCG) c.95-53_95-52insGGGGGGGCG (n.95-53_95-52insGGGGGGGCG) c.687-8087_687-8086insGGGGGGGCG (n.687-8087_687-8086insGGGGGGGCG) c.1297-53_1297-52insGGGGGGGCG (n.1297-53_1297-52insGGGGGGGCG) n.2534-53_2534-52insGGGGGGGCG n.995-2590_995-2589insGGGGGGGCG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGC | CA2692369695 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGC (n.1309-53_1309-52insGGGGGGGGC) c.1216-53_1216-52insGGGGGGGGC (n.1216-53_1216-52insGGGGGGGGC) c.565-53_565-52insGGGGGGGGC (n.565-53_565-52insGGGGGGGGC) c.*113-53_*113-52insGGGGGGGGC (n.*113-53_*113-52insGGGGGGGGC) n.974-2590_974-2589insGGGGGGGGC c.*593-53_*593-52insGGGGGGGGC (n.*593-53_*593-52insGGGGGGGGC) n.993-2590_993-2589insGGGGGGGGC c.919-53_919-52insGGGGGGGGC (n.919-53_919-52insGGGGGGGGC) c.325-53_325-52insGGGGGGGGC (n.325-53_325-52insGGGGGGGGC) c.319-53_319-52insGGGGGGGGC (n.319-53_319-52insGGGGGGGGC) c.-27-53_-27-52insGGGGGGGGC (n.-27-53_-27-52insGGGGGGGGC) c.95-53_95-52insGGGGGGGGC (n.95-53_95-52insGGGGGGGGC) c.687-8087_687-8086insGGGGGGGGC (n.687-8087_687-8086insGGGGGGGGC) c.1297-53_1297-52insGGGGGGGGC (n.1297-53_1297-52insGGGGGGGGC) n.2534-53_2534-52insGGGGGGGGC n.995-2590_995-2589insGGGGGGGGC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGG | CA2692369717 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGG) c.565-53_565-52insGGGGGGGGG (n.565-53_565-52insGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGG c.*593-53_*593-52insGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGG c.919-53_919-52insGGGGGGGGG (n.919-53_919-52insGGGGGGGGG) c.325-53_325-52insGGGGGGGGG (n.325-53_325-52insGGGGGGGGG) c.319-53_319-52insGGGGGGGGG (n.319-53_319-52insGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGG) c.95-53_95-52insGGGGGGGGG (n.95-53_95-52insGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGG n.995-2590_995-2589insGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGTGGGGGGG | CA2692369306 | ADAMTS13 | c.1309-53_1309-52insGTGGGGGGG (n.1309-53_1309-52insGTGGGGGGG) c.1216-53_1216-52insGTGGGGGGG (n.1216-53_1216-52insGTGGGGGGG) c.565-53_565-52insGTGGGGGGG (n.565-53_565-52insGTGGGGGGG) c.*113-53_*113-52insGTGGGGGGG (n.*113-53_*113-52insGTGGGGGGG) n.974-2590_974-2589insGTGGGGGGG c.*593-53_*593-52insGTGGGGGGG (n.*593-53_*593-52insGTGGGGGGG) n.993-2590_993-2589insGTGGGGGGG c.919-53_919-52insGTGGGGGGG (n.919-53_919-52insGTGGGGGGG) c.325-53_325-52insGTGGGGGGG (n.325-53_325-52insGTGGGGGGG) c.319-53_319-52insGTGGGGGGG (n.319-53_319-52insGTGGGGGGG) c.-27-53_-27-52insGTGGGGGGG (n.-27-53_-27-52insGTGGGGGGG) c.95-53_95-52insGTGGGGGGG (n.95-53_95-52insGTGGGGGGG) c.687-8087_687-8086insGTGGGGGGG (n.687-8087_687-8086insGTGGGGGGG) c.1297-53_1297-52insGTGGGGGGG (n.1297-53_1297-52insGTGGGGGGG) n.2534-53_2534-52insGTGGGGGGG n.995-2590_995-2589insGTGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGCGGGGGG | CA2692369426 | ADAMTS13 | c.1309-53_1309-52insGGGCGGGGGG (n.1309-53_1309-52insGGGCGGGGGG) c.1216-53_1216-52insGGGCGGGGGG (n.1216-53_1216-52insGGGCGGGGGG) c.565-53_565-52insGGGCGGGGGG (n.565-53_565-52insGGGCGGGGGG) c.*113-53_*113-52insGGGCGGGGGG (n.*113-53_*113-52insGGGCGGGGGG) n.974-2590_974-2589insGGGCGGGGGG c.*593-53_*593-52insGGGCGGGGGG (n.*593-53_*593-52insGGGCGGGGGG) n.993-2590_993-2589insGGGCGGGGGG c.919-53_919-52insGGGCGGGGGG (n.919-53_919-52insGGGCGGGGGG) c.325-53_325-52insGGGCGGGGGG (n.325-53_325-52insGGGCGGGGGG) c.319-53_319-52insGGGCGGGGGG (n.319-53_319-52insGGGCGGGGGG) c.-27-53_-27-52insGGGCGGGGGG (n.-27-53_-27-52insGGGCGGGGGG) c.95-53_95-52insGGGCGGGGGG (n.95-53_95-52insGGGCGGGGGG) c.687-8087_687-8086insGGGCGGGGGG (n.687-8087_687-8086insGGGCGGGGGG) c.1297-53_1297-52insGGGCGGGGGG (n.1297-53_1297-52insGGGCGGGGGG) n.2534-53_2534-52insGGGCGGGGGG n.995-2590_995-2589insGGGCGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGCGGGGC | CA2692369440 | ADAMTS13 | c.1309-53_1309-52insGGGGCGGGGC (n.1309-53_1309-52insGGGGCGGGGC) c.1216-53_1216-52insGGGGCGGGGC (n.1216-53_1216-52insGGGGCGGGGC) c.565-53_565-52insGGGGCGGGGC (n.565-53_565-52insGGGGCGGGGC) c.*113-53_*113-52insGGGGCGGGGC (n.*113-53_*113-52insGGGGCGGGGC) n.974-2590_974-2589insGGGGCGGGGC c.*593-53_*593-52insGGGGCGGGGC (n.*593-53_*593-52insGGGGCGGGGC) n.993-2590_993-2589insGGGGCGGGGC c.919-53_919-52insGGGGCGGGGC (n.919-53_919-52insGGGGCGGGGC) c.325-53_325-52insGGGGCGGGGC (n.325-53_325-52insGGGGCGGGGC) c.319-53_319-52insGGGGCGGGGC (n.319-53_319-52insGGGGCGGGGC) c.-27-53_-27-52insGGGGCGGGGC (n.-27-53_-27-52insGGGGCGGGGC) c.95-53_95-52insGGGGCGGGGC (n.95-53_95-52insGGGGCGGGGC) c.687-8087_687-8086insGGGGCGGGGC (n.687-8087_687-8086insGGGGCGGGGC) c.1297-53_1297-52insGGGGCGGGGC (n.1297-53_1297-52insGGGGCGGGGC) n.2534-53_2534-52insGGGGCGGGGC n.995-2590_995-2589insGGGGCGGGGC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGCGGGGG | CA2692369442 | ADAMTS13 | c.1309-53_1309-52insGGGGCGGGGG (n.1309-53_1309-52insGGGGCGGGGG) c.1216-53_1216-52insGGGGCGGGGG (n.1216-53_1216-52insGGGGCGGGGG) c.565-53_565-52insGGGGCGGGGG (n.565-53_565-52insGGGGCGGGGG) c.*113-53_*113-52insGGGGCGGGGG (n.*113-53_*113-52insGGGGCGGGGG) n.974-2590_974-2589insGGGGCGGGGG c.*593-53_*593-52insGGGGCGGGGG (n.*593-53_*593-52insGGGGCGGGGG) n.993-2590_993-2589insGGGGCGGGGG c.919-53_919-52insGGGGCGGGGG (n.919-53_919-52insGGGGCGGGGG) c.325-53_325-52insGGGGCGGGGG (n.325-53_325-52insGGGGCGGGGG) c.319-53_319-52insGGGGCGGGGG (n.319-53_319-52insGGGGCGGGGG) c.-27-53_-27-52insGGGGCGGGGG (n.-27-53_-27-52insGGGGCGGGGG) c.95-53_95-52insGGGGCGGGGG (n.95-53_95-52insGGGGCGGGGG) c.687-8087_687-8086insGGGGCGGGGG (n.687-8087_687-8086insGGGGCGGGGG) c.1297-53_1297-52insGGGGCGGGGG (n.1297-53_1297-52insGGGGCGGGGG) n.2534-53_2534-52insGGGGCGGGGG n.995-2590_995-2589insGGGGCGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGCGG | CA2692369688 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGCGG (n.1309-53_1309-52insGGGGGGGCGG) c.1216-53_1216-52insGGGGGGGCGG (n.1216-53_1216-52insGGGGGGGCGG) c.565-53_565-52insGGGGGGGCGG (n.565-53_565-52insGGGGGGGCGG) c.*113-53_*113-52insGGGGGGGCGG (n.*113-53_*113-52insGGGGGGGCGG) n.974-2590_974-2589insGGGGGGGCGG c.*593-53_*593-52insGGGGGGGCGG (n.*593-53_*593-52insGGGGGGGCGG) n.993-2590_993-2589insGGGGGGGCGG c.919-53_919-52insGGGGGGGCGG (n.919-53_919-52insGGGGGGGCGG) c.325-53_325-52insGGGGGGGCGG (n.325-53_325-52insGGGGGGGCGG) c.319-53_319-52insGGGGGGGCGG (n.319-53_319-52insGGGGGGGCGG) c.-27-53_-27-52insGGGGGGGCGG (n.-27-53_-27-52insGGGGGGGCGG) c.95-53_95-52insGGGGGGGCGG (n.95-53_95-52insGGGGGGGCGG) c.687-8087_687-8086insGGGGGGGCGG (n.687-8087_687-8086insGGGGGGGCGG) c.1297-53_1297-52insGGGGGGGCGG (n.1297-53_1297-52insGGGGGGGCGG) n.2534-53_2534-52insGGGGGGGCGG n.995-2590_995-2589insGGGGGGGCGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGCC | CA2692369706 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGCC (n.1309-53_1309-52insGGGGGGGGCC) c.1216-53_1216-52insGGGGGGGGCC (n.1216-53_1216-52insGGGGGGGGCC) c.565-53_565-52insGGGGGGGGCC (n.565-53_565-52insGGGGGGGGCC) c.*113-53_*113-52insGGGGGGGGCC (n.*113-53_*113-52insGGGGGGGGCC) n.974-2590_974-2589insGGGGGGGGCC c.*593-53_*593-52insGGGGGGGGCC (n.*593-53_*593-52insGGGGGGGGCC) n.993-2590_993-2589insGGGGGGGGCC c.919-53_919-52insGGGGGGGGCC (n.919-53_919-52insGGGGGGGGCC) c.325-53_325-52insGGGGGGGGCC (n.325-53_325-52insGGGGGGGGCC) c.319-53_319-52insGGGGGGGGCC (n.319-53_319-52insGGGGGGGGCC) c.-27-53_-27-52insGGGGGGGGCC (n.-27-53_-27-52insGGGGGGGGCC) c.95-53_95-52insGGGGGGGGCC (n.95-53_95-52insGGGGGGGGCC) c.687-8087_687-8086insGGGGGGGGCC (n.687-8087_687-8086insGGGGGGGGCC) c.1297-53_1297-52insGGGGGGGGCC (n.1297-53_1297-52insGGGGGGGGCC) n.2534-53_2534-52insGGGGGGGGCC n.995-2590_995-2589insGGGGGGGGCC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGCG | CA2692369713 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGCG (n.1309-53_1309-52insGGGGGGGGCG) c.1216-53_1216-52insGGGGGGGGCG (n.1216-53_1216-52insGGGGGGGGCG) c.565-53_565-52insGGGGGGGGCG (n.565-53_565-52insGGGGGGGGCG) c.*113-53_*113-52insGGGGGGGGCG (n.*113-53_*113-52insGGGGGGGGCG) n.974-2590_974-2589insGGGGGGGGCG c.*593-53_*593-52insGGGGGGGGCG (n.*593-53_*593-52insGGGGGGGGCG) n.993-2590_993-2589insGGGGGGGGCG c.919-53_919-52insGGGGGGGGCG (n.919-53_919-52insGGGGGGGGCG) c.325-53_325-52insGGGGGGGGCG (n.325-53_325-52insGGGGGGGGCG) c.319-53_319-52insGGGGGGGGCG (n.319-53_319-52insGGGGGGGGCG) c.-27-53_-27-52insGGGGGGGGCG (n.-27-53_-27-52insGGGGGGGGCG) c.95-53_95-52insGGGGGGGGCG (n.95-53_95-52insGGGGGGGGCG) c.687-8087_687-8086insGGGGGGGGCG (n.687-8087_687-8086insGGGGGGGGCG) c.1297-53_1297-52insGGGGGGGGCG (n.1297-53_1297-52insGGGGGGGGCG) n.2534-53_2534-52insGGGGGGGGCG n.995-2590_995-2589insGGGGGGGGCG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGC | CA2692369725 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGC (n.1309-53_1309-52insGGGGGGGGGC) c.1216-53_1216-52insGGGGGGGGGC (n.1216-53_1216-52insGGGGGGGGGC) c.565-53_565-52insGGGGGGGGGC (n.565-53_565-52insGGGGGGGGGC) c.*113-53_*113-52insGGGGGGGGGC (n.*113-53_*113-52insGGGGGGGGGC) n.974-2590_974-2589insGGGGGGGGGC c.*593-53_*593-52insGGGGGGGGGC (n.*593-53_*593-52insGGGGGGGGGC) n.993-2590_993-2589insGGGGGGGGGC c.919-53_919-52insGGGGGGGGGC (n.919-53_919-52insGGGGGGGGGC) c.325-53_325-52insGGGGGGGGGC (n.325-53_325-52insGGGGGGGGGC) c.319-53_319-52insGGGGGGGGGC (n.319-53_319-52insGGGGGGGGGC) c.-27-53_-27-52insGGGGGGGGGC (n.-27-53_-27-52insGGGGGGGGGC) c.95-53_95-52insGGGGGGGGGC (n.95-53_95-52insGGGGGGGGGC) c.687-8087_687-8086insGGGGGGGGGC (n.687-8087_687-8086insGGGGGGGGGC) c.1297-53_1297-52insGGGGGGGGGC (n.1297-53_1297-52insGGGGGGGGGC) n.2534-53_2534-52insGGGGGGGGGC n.995-2590_995-2589insGGGGGGGGGC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGG | CA2692369673 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGG c.919-53_919-52insGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGTC | CA2692369305 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGTC (n.1309-53_1309-52insGGGGGGGGTC) c.1216-53_1216-52insGGGGGGGGTC (n.1216-53_1216-52insGGGGGGGGTC) c.565-53_565-52insGGGGGGGGTC (n.565-53_565-52insGGGGGGGGTC) c.*113-53_*113-52insGGGGGGGGTC (n.*113-53_*113-52insGGGGGGGGTC) n.974-2590_974-2589insGGGGGGGGTC c.*593-53_*593-52insGGGGGGGGTC (n.*593-53_*593-52insGGGGGGGGTC) n.993-2590_993-2589insGGGGGGGGTC c.919-53_919-52insGGGGGGGGTC (n.919-53_919-52insGGGGGGGGTC) c.325-53_325-52insGGGGGGGGTC (n.325-53_325-52insGGGGGGGGTC) c.319-53_319-52insGGGGGGGGTC (n.319-53_319-52insGGGGGGGGTC) c.-27-53_-27-52insGGGGGGGGTC (n.-27-53_-27-52insGGGGGGGGTC) c.95-53_95-52insGGGGGGGGTC (n.95-53_95-52insGGGGGGGGTC) c.687-8087_687-8086insGGGGGGGGTC (n.687-8087_687-8086insGGGGGGGGTC) c.1297-53_1297-52insGGGGGGGGTC (n.1297-53_1297-52insGGGGGGGGTC) n.2534-53_2534-52insGGGGGGGGTC n.995-2590_995-2589insGGGGGGGGTC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGCGGGGGC | CA2692369444 | ADAMTS13 | c.1309-53_1309-52insGGGGCGGGGGC (n.1309-53_1309-52insGGGGCGGGGGC) c.1216-53_1216-52insGGGGCGGGGGC (n.1216-53_1216-52insGGGGCGGGGGC) c.565-53_565-52insGGGGCGGGGGC (n.565-53_565-52insGGGGCGGGGGC) c.*113-53_*113-52insGGGGCGGGGGC (n.*113-53_*113-52insGGGGCGGGGGC) n.974-2590_974-2589insGGGGCGGGGGC c.*593-53_*593-52insGGGGCGGGGGC (n.*593-53_*593-52insGGGGCGGGGGC) n.993-2590_993-2589insGGGGCGGGGGC c.919-53_919-52insGGGGCGGGGGC (n.919-53_919-52insGGGGCGGGGGC) c.325-53_325-52insGGGGCGGGGGC (n.325-53_325-52insGGGGCGGGGGC) c.319-53_319-52insGGGGCGGGGGC (n.319-53_319-52insGGGGCGGGGGC) c.-27-53_-27-52insGGGGCGGGGGC (n.-27-53_-27-52insGGGGCGGGGGC) c.95-53_95-52insGGGGCGGGGGC (n.95-53_95-52insGGGGCGGGGGC) c.687-8087_687-8086insGGGGCGGGGGC (n.687-8087_687-8086insGGGGCGGGGGC) c.1297-53_1297-52insGGGGCGGGGGC (n.1297-53_1297-52insGGGGCGGGGGC) n.2534-53_2534-52insGGGGCGGGGGC n.995-2590_995-2589insGGGGCGGGGGC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGCGGGGGG | CA2692369448 | ADAMTS13 | c.1309-53_1309-52insGGGGCGGGGGG (n.1309-53_1309-52insGGGGCGGGGGG) c.1216-53_1216-52insGGGGCGGGGGG (n.1216-53_1216-52insGGGGCGGGGGG) c.565-53_565-52insGGGGCGGGGGG (n.565-53_565-52insGGGGCGGGGGG) c.*113-53_*113-52insGGGGCGGGGGG (n.*113-53_*113-52insGGGGCGGGGGG) n.974-2590_974-2589insGGGGCGGGGGG c.*593-53_*593-52insGGGGCGGGGGG (n.*593-53_*593-52insGGGGCGGGGGG) n.993-2590_993-2589insGGGGCGGGGGG c.919-53_919-52insGGGGCGGGGGG (n.919-53_919-52insGGGGCGGGGGG) c.325-53_325-52insGGGGCGGGGGG (n.325-53_325-52insGGGGCGGGGGG) c.319-53_319-52insGGGGCGGGGGG (n.319-53_319-52insGGGGCGGGGGG) c.-27-53_-27-52insGGGGCGGGGGG (n.-27-53_-27-52insGGGGCGGGGGG) c.95-53_95-52insGGGGCGGGGGG (n.95-53_95-52insGGGGCGGGGGG) c.687-8087_687-8086insGGGGCGGGGGG (n.687-8087_687-8086insGGGGCGGGGGG) c.1297-53_1297-52insGGGGCGGGGGG (n.1297-53_1297-52insGGGGCGGGGGG) n.2534-53_2534-52insGGGGCGGGGGG n.995-2590_995-2589insGGGGCGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGCC | CA2692369731 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGCC (n.1309-53_1309-52insGGGGGGGGGCC) c.1216-53_1216-52insGGGGGGGGGCC (n.1216-53_1216-52insGGGGGGGGGCC) c.565-53_565-52insGGGGGGGGGCC (n.565-53_565-52insGGGGGGGGGCC) c.*113-53_*113-52insGGGGGGGGGCC (n.*113-53_*113-52insGGGGGGGGGCC) n.974-2590_974-2589insGGGGGGGGGCC c.*593-53_*593-52insGGGGGGGGGCC (n.*593-53_*593-52insGGGGGGGGGCC) n.993-2590_993-2589insGGGGGGGGGCC c.919-53_919-52insGGGGGGGGGCC (n.919-53_919-52insGGGGGGGGGCC) c.325-53_325-52insGGGGGGGGGCC (n.325-53_325-52insGGGGGGGGGCC) c.319-53_319-52insGGGGGGGGGCC (n.319-53_319-52insGGGGGGGGGCC) c.-27-53_-27-52insGGGGGGGGGCC (n.-27-53_-27-52insGGGGGGGGGCC) c.95-53_95-52insGGGGGGGGGCC (n.95-53_95-52insGGGGGGGGGCC) c.687-8087_687-8086insGGGGGGGGGCC (n.687-8087_687-8086insGGGGGGGGGCC) c.1297-53_1297-52insGGGGGGGGGCC (n.1297-53_1297-52insGGGGGGGGGCC) n.2534-53_2534-52insGGGGGGGGGCC n.995-2590_995-2589insGGGGGGGGGCC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGCG | CA2692369735 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGCG (n.1309-53_1309-52insGGGGGGGGGCG) c.1216-53_1216-52insGGGGGGGGGCG (n.1216-53_1216-52insGGGGGGGGGCG) c.565-53_565-52insGGGGGGGGGCG (n.565-53_565-52insGGGGGGGGGCG) c.*113-53_*113-52insGGGGGGGGGCG (n.*113-53_*113-52insGGGGGGGGGCG) n.974-2590_974-2589insGGGGGGGGGCG c.*593-53_*593-52insGGGGGGGGGCG (n.*593-53_*593-52insGGGGGGGGGCG) n.993-2590_993-2589insGGGGGGGGGCG c.919-53_919-52insGGGGGGGGGCG (n.919-53_919-52insGGGGGGGGGCG) c.325-53_325-52insGGGGGGGGGCG (n.325-53_325-52insGGGGGGGGGCG) c.319-53_319-52insGGGGGGGGGCG (n.319-53_319-52insGGGGGGGGGCG) c.-27-53_-27-52insGGGGGGGGGCG (n.-27-53_-27-52insGGGGGGGGGCG) c.95-53_95-52insGGGGGGGGGCG (n.95-53_95-52insGGGGGGGGGCG) c.687-8087_687-8086insGGGGGGGGGCG (n.687-8087_687-8086insGGGGGGGGGCG) c.1297-53_1297-52insGGGGGGGGGCG (n.1297-53_1297-52insGGGGGGGGGCG) n.2534-53_2534-52insGGGGGGGGGCG n.995-2590_995-2589insGGGGGGGGGCG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGC | CA2692369573 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGC (n.1309-53_1309-52insGGGGGGGGGGC) c.1216-53_1216-52insGGGGGGGGGGC (n.1216-53_1216-52insGGGGGGGGGGC) c.565-53_565-52insGGGGGGGGGGC (n.565-53_565-52insGGGGGGGGGGC) c.*113-53_*113-52insGGGGGGGGGGC (n.*113-53_*113-52insGGGGGGGGGGC) n.974-2590_974-2589insGGGGGGGGGGC c.*593-53_*593-52insGGGGGGGGGGC (n.*593-53_*593-52insGGGGGGGGGGC) n.993-2590_993-2589insGGGGGGGGGGC c.919-53_919-52insGGGGGGGGGGC (n.919-53_919-52insGGGGGGGGGGC) c.325-53_325-52insGGGGGGGGGGC (n.325-53_325-52insGGGGGGGGGGC) c.319-53_319-52insGGGGGGGGGGC (n.319-53_319-52insGGGGGGGGGGC) c.-27-53_-27-52insGGGGGGGGGGC (n.-27-53_-27-52insGGGGGGGGGGC) c.95-53_95-52insGGGGGGGGGGC (n.95-53_95-52insGGGGGGGGGGC) c.687-8087_687-8086insGGGGGGGGGGC (n.687-8087_687-8086insGGGGGGGGGGC) c.1297-53_1297-52insGGGGGGGGGGC (n.1297-53_1297-52insGGGGGGGGGGC) n.2534-53_2534-52insGGGGGGGGGGC n.995-2590_995-2589insGGGGGGGGGGC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGG | CA2692369596 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGCC | CA2692369578 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGCC (n.1309-53_1309-52insGGGGGGGGGGCC) c.1216-53_1216-52insGGGGGGGGGGCC (n.1216-53_1216-52insGGGGGGGGGGCC) c.565-53_565-52insGGGGGGGGGGCC (n.565-53_565-52insGGGGGGGGGGCC) c.*113-53_*113-52insGGGGGGGGGGCC (n.*113-53_*113-52insGGGGGGGGGGCC) n.974-2590_974-2589insGGGGGGGGGGCC c.*593-53_*593-52insGGGGGGGGGGCC (n.*593-53_*593-52insGGGGGGGGGGCC) n.993-2590_993-2589insGGGGGGGGGGCC c.919-53_919-52insGGGGGGGGGGCC (n.919-53_919-52insGGGGGGGGGGCC) c.325-53_325-52insGGGGGGGGGGCC (n.325-53_325-52insGGGGGGGGGGCC) c.319-53_319-52insGGGGGGGGGGCC (n.319-53_319-52insGGGGGGGGGGCC) c.-27-53_-27-52insGGGGGGGGGGCC (n.-27-53_-27-52insGGGGGGGGGGCC) c.95-53_95-52insGGGGGGGGGGCC (n.95-53_95-52insGGGGGGGGGGCC) c.687-8087_687-8086insGGGGGGGGGGCC (n.687-8087_687-8086insGGGGGGGGGGCC) c.1297-53_1297-52insGGGGGGGGGGCC (n.1297-53_1297-52insGGGGGGGGGGCC) n.2534-53_2534-52insGGGGGGGGGGCC n.995-2590_995-2589insGGGGGGGGGGCC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGC | CA2692369607 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGC (n.1309-53_1309-52insGGGGGGGGGGGC) c.1216-53_1216-52insGGGGGGGGGGGC (n.1216-53_1216-52insGGGGGGGGGGGC) c.565-53_565-52insGGGGGGGGGGGC (n.565-53_565-52insGGGGGGGGGGGC) c.*113-53_*113-52insGGGGGGGGGGGC (n.*113-53_*113-52insGGGGGGGGGGGC) n.974-2590_974-2589insGGGGGGGGGGGC c.*593-53_*593-52insGGGGGGGGGGGC (n.*593-53_*593-52insGGGGGGGGGGGC) n.993-2590_993-2589insGGGGGGGGGGGC c.919-53_919-52insGGGGGGGGGGGC (n.919-53_919-52insGGGGGGGGGGGC) c.325-53_325-52insGGGGGGGGGGGC (n.325-53_325-52insGGGGGGGGGGGC) c.319-53_319-52insGGGGGGGGGGGC (n.319-53_319-52insGGGGGGGGGGGC) c.-27-53_-27-52insGGGGGGGGGGGC (n.-27-53_-27-52insGGGGGGGGGGGC) c.95-53_95-52insGGGGGGGGGGGC (n.95-53_95-52insGGGGGGGGGGGC) c.687-8087_687-8086insGGGGGGGGGGGC (n.687-8087_687-8086insGGGGGGGGGGGC) c.1297-53_1297-52insGGGGGGGGGGGC (n.1297-53_1297-52insGGGGGGGGGGGC) n.2534-53_2534-52insGGGGGGGGGGGC n.995-2590_995-2589insGGGGGGGGGGGC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGG | CA2692369650 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGCGG | CA2692369587 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGCGG (n.1309-53_1309-52insGGGGGGGGGGCGG) c.1216-53_1216-52insGGGGGGGGGGCGG (n.1216-53_1216-52insGGGGGGGGGGCGG) c.565-53_565-52insGGGGGGGGGGCGG (n.565-53_565-52insGGGGGGGGGGCGG) c.*113-53_*113-52insGGGGGGGGGGCGG (n.*113-53_*113-52insGGGGGGGGGGCGG) n.974-2590_974-2589insGGGGGGGGGGCGG c.*593-53_*593-52insGGGGGGGGGGCGG (n.*593-53_*593-52insGGGGGGGGGGCGG) n.993-2590_993-2589insGGGGGGGGGGCGG c.919-53_919-52insGGGGGGGGGGCGG (n.919-53_919-52insGGGGGGGGGGCGG) c.325-53_325-52insGGGGGGGGGGCGG (n.325-53_325-52insGGGGGGGGGGCGG) c.319-53_319-52insGGGGGGGGGGCGG (n.319-53_319-52insGGGGGGGGGGCGG) c.-27-53_-27-52insGGGGGGGGGGCGG (n.-27-53_-27-52insGGGGGGGGGGCGG) c.95-53_95-52insGGGGGGGGGGCGG (n.95-53_95-52insGGGGGGGGGGCGG) c.687-8087_687-8086insGGGGGGGGGGCGG (n.687-8087_687-8086insGGGGGGGGGGCGG) c.1297-53_1297-52insGGGGGGGGGGCGG (n.1297-53_1297-52insGGGGGGGGGGCGG) n.2534-53_2534-52insGGGGGGGGGGCGG n.995-2590_995-2589insGGGGGGGGGGCGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGCC | CA2786169543 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGCC (n.1309-53_1309-52insGGGGGGGGGGGCC) c.1216-53_1216-52insGGGGGGGGGGGCC (n.1216-53_1216-52insGGGGGGGGGGGCC) c.565-53_565-52insGGGGGGGGGGGCC (n.565-53_565-52insGGGGGGGGGGGCC) c.*113-53_*113-52insGGGGGGGGGGGCC (n.*113-53_*113-52insGGGGGGGGGGGCC) n.974-2590_974-2589insGGGGGGGGGGGCC c.*593-53_*593-52insGGGGGGGGGGGCC (n.*593-53_*593-52insGGGGGGGGGGGCC) n.993-2590_993-2589insGGGGGGGGGGGCC c.919-53_919-52insGGGGGGGGGGGCC (n.919-53_919-52insGGGGGGGGGGGCC) c.325-53_325-52insGGGGGGGGGGGCC (n.325-53_325-52insGGGGGGGGGGGCC) c.319-53_319-52insGGGGGGGGGGGCC (n.319-53_319-52insGGGGGGGGGGGCC) c.-27-53_-27-52insGGGGGGGGGGGCC (n.-27-53_-27-52insGGGGGGGGGGGCC) c.95-53_95-52insGGGGGGGGGGGCC (n.95-53_95-52insGGGGGGGGGGGCC) c.687-8087_687-8086insGGGGGGGGGGGCC (n.687-8087_687-8086insGGGGGGGGGGGCC) c.1297-53_1297-52insGGGGGGGGGGGCC (n.1297-53_1297-52insGGGGGGGGGGGCC) n.2534-53_2534-52insGGGGGGGGGGGCC n.995-2590_995-2589insGGGGGGGGGGGCC | |
| 9 | g.133436776_133436777insGGGGGGGGGGGGC | CA2692369652 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGC (n.1309-53_1309-52insGGGGGGGGGGGGC) c.1216-53_1216-52insGGGGGGGGGGGGC (n.1216-53_1216-52insGGGGGGGGGGGGC) c.565-53_565-52insGGGGGGGGGGGGC (n.565-53_565-52insGGGGGGGGGGGGC) c.*113-53_*113-52insGGGGGGGGGGGGC (n.*113-53_*113-52insGGGGGGGGGGGGC) n.974-2590_974-2589insGGGGGGGGGGGGC c.*593-53_*593-52insGGGGGGGGGGGGC (n.*593-53_*593-52insGGGGGGGGGGGGC) n.993-2590_993-2589insGGGGGGGGGGGGC c.919-53_919-52insGGGGGGGGGGGGC (n.919-53_919-52insGGGGGGGGGGGGC) c.325-53_325-52insGGGGGGGGGGGGC (n.325-53_325-52insGGGGGGGGGGGGC) c.319-53_319-52insGGGGGGGGGGGGC (n.319-53_319-52insGGGGGGGGGGGGC) c.-27-53_-27-52insGGGGGGGGGGGGC (n.-27-53_-27-52insGGGGGGGGGGGGC) c.95-53_95-52insGGGGGGGGGGGGC (n.95-53_95-52insGGGGGGGGGGGGC) c.687-8087_687-8086insGGGGGGGGGGGGC (n.687-8087_687-8086insGGGGGGGGGGGGC) c.1297-53_1297-52insGGGGGGGGGGGGC (n.1297-53_1297-52insGGGGGGGGGGGGC) n.2534-53_2534-52insGGGGGGGGGGGGC n.995-2590_995-2589insGGGGGGGGGGGGC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGG | CA2692369515 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGCGG | CA2692369615 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGCGG (n.1309-53_1309-52insGGGGGGGGGGGCGG) c.1216-53_1216-52insGGGGGGGGGGGCGG (n.1216-53_1216-52insGGGGGGGGGGGCGG) c.565-53_565-52insGGGGGGGGGGGCGG (n.565-53_565-52insGGGGGGGGGGGCGG) c.*113-53_*113-52insGGGGGGGGGGGCGG (n.*113-53_*113-52insGGGGGGGGGGGCGG) n.974-2590_974-2589insGGGGGGGGGGGCGG c.*593-53_*593-52insGGGGGGGGGGGCGG (n.*593-53_*593-52insGGGGGGGGGGGCGG) n.993-2590_993-2589insGGGGGGGGGGGCGG c.919-53_919-52insGGGGGGGGGGGCGG (n.919-53_919-52insGGGGGGGGGGGCGG) c.325-53_325-52insGGGGGGGGGGGCGG (n.325-53_325-52insGGGGGGGGGGGCGG) c.319-53_319-52insGGGGGGGGGGGCGG (n.319-53_319-52insGGGGGGGGGGGCGG) c.-27-53_-27-52insGGGGGGGGGGGCGG (n.-27-53_-27-52insGGGGGGGGGGGCGG) c.95-53_95-52insGGGGGGGGGGGCGG (n.95-53_95-52insGGGGGGGGGGGCGG) c.687-8087_687-8086insGGGGGGGGGGGCGG (n.687-8087_687-8086insGGGGGGGGGGGCGG) c.1297-53_1297-52insGGGGGGGGGGGCGG (n.1297-53_1297-52insGGGGGGGGGGGCGG) n.2534-53_2534-52insGGGGGGGGGGGCGG n.995-2590_995-2589insGGGGGGGGGGGCGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGG | CA2692369470 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGCCGGG | CA2692369583 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGCCGGG (n.1309-53_1309-52insGGGGGGGGGGCCGGG) c.1216-53_1216-52insGGGGGGGGGGCCGGG (n.1216-53_1216-52insGGGGGGGGGGCCGGG) c.565-53_565-52insGGGGGGGGGGCCGGG (n.565-53_565-52insGGGGGGGGGGCCGGG) c.*113-53_*113-52insGGGGGGGGGGCCGGG (n.*113-53_*113-52insGGGGGGGGGGCCGGG) n.974-2590_974-2589insGGGGGGGGGGCCGGG c.*593-53_*593-52insGGGGGGGGGGCCGGG (n.*593-53_*593-52insGGGGGGGGGGCCGGG) n.993-2590_993-2589insGGGGGGGGGGCCGGG c.919-53_919-52insGGGGGGGGGGCCGGG (n.919-53_919-52insGGGGGGGGGGCCGGG) c.325-53_325-52insGGGGGGGGGGCCGGG (n.325-53_325-52insGGGGGGGGGGCCGGG) c.319-53_319-52insGGGGGGGGGGCCGGG (n.319-53_319-52insGGGGGGGGGGCCGGG) c.-27-53_-27-52insGGGGGGGGGGCCGGG (n.-27-53_-27-52insGGGGGGGGGGCCGGG) c.95-53_95-52insGGGGGGGGGGCCGGG (n.95-53_95-52insGGGGGGGGGGCCGGG) c.687-8087_687-8086insGGGGGGGGGGCCGGG (n.687-8087_687-8086insGGGGGGGGGGCCGGG) c.1297-53_1297-52insGGGGGGGGGGCCGGG (n.1297-53_1297-52insGGGGGGGGGGCCGGG) n.2534-53_2534-52insGGGGGGGGGGCCGGG n.995-2590_995-2589insGGGGGGGGGGCCGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGC | CA2692369290 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGC (n.1309-53_1309-52insGGGGGGGGGGGGGGC) c.1216-53_1216-52insGGGGGGGGGGGGGGC (n.1216-53_1216-52insGGGGGGGGGGGGGGC) c.565-53_565-52insGGGGGGGGGGGGGGC (n.565-53_565-52insGGGGGGGGGGGGGGC) c.*113-53_*113-52insGGGGGGGGGGGGGGC (n.*113-53_*113-52insGGGGGGGGGGGGGGC) n.974-2590_974-2589insGGGGGGGGGGGGGGC c.*593-53_*593-52insGGGGGGGGGGGGGGC (n.*593-53_*593-52insGGGGGGGGGGGGGGC) n.993-2590_993-2589insGGGGGGGGGGGGGGC c.919-53_919-52insGGGGGGGGGGGGGGC (n.919-53_919-52insGGGGGGGGGGGGGGC) c.325-53_325-52insGGGGGGGGGGGGGGC (n.325-53_325-52insGGGGGGGGGGGGGGC) c.319-53_319-52insGGGGGGGGGGGGGGC (n.319-53_319-52insGGGGGGGGGGGGGGC) c.-27-53_-27-52insGGGGGGGGGGGGGGC (n.-27-53_-27-52insGGGGGGGGGGGGGGC) c.95-53_95-52insGGGGGGGGGGGGGGC (n.95-53_95-52insGGGGGGGGGGGGGGC) c.687-8087_687-8086insGGGGGGGGGGGGGGC (n.687-8087_687-8086insGGGGGGGGGGGGGGC) c.1297-53_1297-52insGGGGGGGGGGGGGGC (n.1297-53_1297-52insGGGGGGGGGGGGGGC) n.2534-53_2534-52insGGGGGGGGGGGGGGC n.995-2590_995-2589insGGGGGGGGGGGGGGC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGG | CA2692369285 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGCGGGGGGGGGGG | CA2692369451 | ADAMTS13 | c.1309-53_1309-52insGGGGCGGGGGGGGGGG (n.1309-53_1309-52insGGGGCGGGGGGGGGGG) c.1216-53_1216-52insGGGGCGGGGGGGGGGG (n.1216-53_1216-52insGGGGCGGGGGGGGGGG) c.565-53_565-52insGGGGCGGGGGGGGGGG (n.565-53_565-52insGGGGCGGGGGGGGGGG) c.*113-53_*113-52insGGGGCGGGGGGGGGGG (n.*113-53_*113-52insGGGGCGGGGGGGGGGG) n.974-2590_974-2589insGGGGCGGGGGGGGGGG c.*593-53_*593-52insGGGGCGGGGGGGGGGG (n.*593-53_*593-52insGGGGCGGGGGGGGGGG) n.993-2590_993-2589insGGGGCGGGGGGGGGGG c.919-53_919-52insGGGGCGGGGGGGGGGG (n.919-53_919-52insGGGGCGGGGGGGGGGG) c.325-53_325-52insGGGGCGGGGGGGGGGG (n.325-53_325-52insGGGGCGGGGGGGGGGG) c.319-53_319-52insGGGGCGGGGGGGGGGG (n.319-53_319-52insGGGGCGGGGGGGGGGG) c.-27-53_-27-52insGGGGCGGGGGGGGGGG (n.-27-53_-27-52insGGGGCGGGGGGGGGGG) c.95-53_95-52insGGGGCGGGGGGGGGGG (n.95-53_95-52insGGGGCGGGGGGGGGGG) c.687-8087_687-8086insGGGGCGGGGGGGGGGG (n.687-8087_687-8086insGGGGCGGGGGGGGGGG) c.1297-53_1297-52insGGGGCGGGGGGGGGGG (n.1297-53_1297-52insGGGGCGGGGGGGGGGG) n.2534-53_2534-52insGGGGCGGGGGGGGGGG n.995-2590_995-2589insGGGGCGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGCGGCC | CA2692369565 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGCGGCC (n.1309-53_1309-52insGGGGGGGGGGGCGGCC) c.1216-53_1216-52insGGGGGGGGGGGCGGCC (n.1216-53_1216-52insGGGGGGGGGGGCGGCC) c.565-53_565-52insGGGGGGGGGGGCGGCC (n.565-53_565-52insGGGGGGGGGGGCGGCC) c.*113-53_*113-52insGGGGGGGGGGGCGGCC (n.*113-53_*113-52insGGGGGGGGGGGCGGCC) n.974-2590_974-2589insGGGGGGGGGGGCGGCC c.*593-53_*593-52insGGGGGGGGGGGCGGCC (n.*593-53_*593-52insGGGGGGGGGGGCGGCC) n.993-2590_993-2589insGGGGGGGGGGGCGGCC c.919-53_919-52insGGGGGGGGGGGCGGCC (n.919-53_919-52insGGGGGGGGGGGCGGCC) c.325-53_325-52insGGGGGGGGGGGCGGCC (n.325-53_325-52insGGGGGGGGGGGCGGCC) c.319-53_319-52insGGGGGGGGGGGCGGCC (n.319-53_319-52insGGGGGGGGGGGCGGCC) c.-27-53_-27-52insGGGGGGGGGGGCGGCC (n.-27-53_-27-52insGGGGGGGGGGGCGGCC) c.95-53_95-52insGGGGGGGGGGGCGGCC (n.95-53_95-52insGGGGGGGGGGGCGGCC) c.687-8087_687-8086insGGGGGGGGGGGCGGCC (n.687-8087_687-8086insGGGGGGGGGGGCGGCC) c.1297-53_1297-52insGGGGGGGGGGGCGGCC (n.1297-53_1297-52insGGGGGGGGGGGCGGCC) n.2534-53_2534-52insGGGGGGGGGGGCGGCC n.995-2590_995-2589insGGGGGGGGGGGCGGCC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGCGGGG | CA2692369628 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGCGGGG (n.1309-53_1309-52insGGGGGGGGGGGCGGGG) c.1216-53_1216-52insGGGGGGGGGGGCGGGG (n.1216-53_1216-52insGGGGGGGGGGGCGGGG) c.565-53_565-52insGGGGGGGGGGGCGGGG (n.565-53_565-52insGGGGGGGGGGGCGGGG) c.*113-53_*113-52insGGGGGGGGGGGCGGGG (n.*113-53_*113-52insGGGGGGGGGGGCGGGG) n.974-2590_974-2589insGGGGGGGGGGGCGGGG c.*593-53_*593-52insGGGGGGGGGGGCGGGG (n.*593-53_*593-52insGGGGGGGGGGGCGGGG) n.993-2590_993-2589insGGGGGGGGGGGCGGGG c.919-53_919-52insGGGGGGGGGGGCGGGG (n.919-53_919-52insGGGGGGGGGGGCGGGG) c.325-53_325-52insGGGGGGGGGGGCGGGG (n.325-53_325-52insGGGGGGGGGGGCGGGG) c.319-53_319-52insGGGGGGGGGGGCGGGG (n.319-53_319-52insGGGGGGGGGGGCGGGG) c.-27-53_-27-52insGGGGGGGGGGGCGGGG (n.-27-53_-27-52insGGGGGGGGGGGCGGGG) c.95-53_95-52insGGGGGGGGGGGCGGGG (n.95-53_95-52insGGGGGGGGGGGCGGGG) c.687-8087_687-8086insGGGGGGGGGGGCGGGG (n.687-8087_687-8086insGGGGGGGGGGGCGGGG) c.1297-53_1297-52insGGGGGGGGGGGCGGGG (n.1297-53_1297-52insGGGGGGGGGGGCGGGG) n.2534-53_2534-52insGGGGGGGGGGGCGGGG n.995-2590_995-2589insGGGGGGGGGGGCGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGCC | CA2692369289 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGCC (n.1309-53_1309-52insGGGGGGGGGGGGGGCC) c.1216-53_1216-52insGGGGGGGGGGGGGGCC (n.1216-53_1216-52insGGGGGGGGGGGGGGCC) c.565-53_565-52insGGGGGGGGGGGGGGCC (n.565-53_565-52insGGGGGGGGGGGGGGCC) c.*113-53_*113-52insGGGGGGGGGGGGGGCC (n.*113-53_*113-52insGGGGGGGGGGGGGGCC) n.974-2590_974-2589insGGGGGGGGGGGGGGCC c.*593-53_*593-52insGGGGGGGGGGGGGGCC (n.*593-53_*593-52insGGGGGGGGGGGGGGCC) n.993-2590_993-2589insGGGGGGGGGGGGGGCC c.919-53_919-52insGGGGGGGGGGGGGGCC (n.919-53_919-52insGGGGGGGGGGGGGGCC) c.325-53_325-52insGGGGGGGGGGGGGGCC (n.325-53_325-52insGGGGGGGGGGGGGGCC) c.319-53_319-52insGGGGGGGGGGGGGGCC (n.319-53_319-52insGGGGGGGGGGGGGGCC) c.-27-53_-27-52insGGGGGGGGGGGGGGCC (n.-27-53_-27-52insGGGGGGGGGGGGGGCC) c.95-53_95-52insGGGGGGGGGGGGGGCC (n.95-53_95-52insGGGGGGGGGGGGGGCC) c.687-8087_687-8086insGGGGGGGGGGGGGGCC (n.687-8087_687-8086insGGGGGGGGGGGGGGCC) c.1297-53_1297-52insGGGGGGGGGGGGGGCC (n.1297-53_1297-52insGGGGGGGGGGGGGGCC) n.2534-53_2534-52insGGGGGGGGGGGGGGCC n.995-2590_995-2589insGGGGGGGGGGGGGGCC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGCG | CA2692369288 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGCG (n.1309-53_1309-52insGGGGGGGGGGGGGGCG) c.1216-53_1216-52insGGGGGGGGGGGGGGCG (n.1216-53_1216-52insGGGGGGGGGGGGGGCG) c.565-53_565-52insGGGGGGGGGGGGGGCG (n.565-53_565-52insGGGGGGGGGGGGGGCG) c.*113-53_*113-52insGGGGGGGGGGGGGGCG (n.*113-53_*113-52insGGGGGGGGGGGGGGCG) n.974-2590_974-2589insGGGGGGGGGGGGGGCG c.*593-53_*593-52insGGGGGGGGGGGGGGCG (n.*593-53_*593-52insGGGGGGGGGGGGGGCG) n.993-2590_993-2589insGGGGGGGGGGGGGGCG c.919-53_919-52insGGGGGGGGGGGGGGCG (n.919-53_919-52insGGGGGGGGGGGGGGCG) c.325-53_325-52insGGGGGGGGGGGGGGCG (n.325-53_325-52insGGGGGGGGGGGGGGCG) c.319-53_319-52insGGGGGGGGGGGGGGCG (n.319-53_319-52insGGGGGGGGGGGGGGCG) c.-27-53_-27-52insGGGGGGGGGGGGGGCG (n.-27-53_-27-52insGGGGGGGGGGGGGGCG) c.95-53_95-52insGGGGGGGGGGGGGGCG (n.95-53_95-52insGGGGGGGGGGGGGGCG) c.687-8087_687-8086insGGGGGGGGGGGGGGCG (n.687-8087_687-8086insGGGGGGGGGGGGGGCG) c.1297-53_1297-52insGGGGGGGGGGGGGGCG (n.1297-53_1297-52insGGGGGGGGGGGGGGCG) n.2534-53_2534-52insGGGGGGGGGGGGGGCG n.995-2590_995-2589insGGGGGGGGGGGGGGCG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGC | CA2692369284 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGC (n.1309-53_1309-52insGGGGGGGGGGGGGGGC) c.1216-53_1216-52insGGGGGGGGGGGGGGGC (n.1216-53_1216-52insGGGGGGGGGGGGGGGC) c.565-53_565-52insGGGGGGGGGGGGGGGC (n.565-53_565-52insGGGGGGGGGGGGGGGC) c.*113-53_*113-52insGGGGGGGGGGGGGGGC (n.*113-53_*113-52insGGGGGGGGGGGGGGGC) n.974-2590_974-2589insGGGGGGGGGGGGGGGC c.*593-53_*593-52insGGGGGGGGGGGGGGGC (n.*593-53_*593-52insGGGGGGGGGGGGGGGC) n.993-2590_993-2589insGGGGGGGGGGGGGGGC c.919-53_919-52insGGGGGGGGGGGGGGGC (n.919-53_919-52insGGGGGGGGGGGGGGGC) c.325-53_325-52insGGGGGGGGGGGGGGGC (n.325-53_325-52insGGGGGGGGGGGGGGGC) c.319-53_319-52insGGGGGGGGGGGGGGGC (n.319-53_319-52insGGGGGGGGGGGGGGGC) c.-27-53_-27-52insGGGGGGGGGGGGGGGC (n.-27-53_-27-52insGGGGGGGGGGGGGGGC) c.95-53_95-52insGGGGGGGGGGGGGGGC (n.95-53_95-52insGGGGGGGGGGGGGGGC) c.687-8087_687-8086insGGGGGGGGGGGGGGGC (n.687-8087_687-8086insGGGGGGGGGGGGGGGC) c.1297-53_1297-52insGGGGGGGGGGGGGGGC (n.1297-53_1297-52insGGGGGGGGGGGGGGGC) n.2534-53_2534-52insGGGGGGGGGGGGGGGC n.995-2590_995-2589insGGGGGGGGGGGGGGGC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGG | CA2692369283 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGTGGGGGGGGGGGGGG | CA2786169531 | ADAMTS13 | c.1309-53_1309-52insGTGGGGGGGGGGGGGG (n.1309-53_1309-52insGTGGGGGGGGGGGGGG) c.1216-53_1216-52insGTGGGGGGGGGGGGGG (n.1216-53_1216-52insGTGGGGGGGGGGGGGG) c.565-53_565-52insGTGGGGGGGGGGGGGG (n.565-53_565-52insGTGGGGGGGGGGGGGG) c.*113-53_*113-52insGTGGGGGGGGGGGGGG (n.*113-53_*113-52insGTGGGGGGGGGGGGGG) n.974-2590_974-2589insGTGGGGGGGGGGGGGG c.*593-53_*593-52insGTGGGGGGGGGGGGGG (n.*593-53_*593-52insGTGGGGGGGGGGGGGG) n.993-2590_993-2589insGTGGGGGGGGGGGGGG c.919-53_919-52insGTGGGGGGGGGGGGGG (n.919-53_919-52insGTGGGGGGGGGGGGGG) c.325-53_325-52insGTGGGGGGGGGGGGGG (n.325-53_325-52insGTGGGGGGGGGGGGGG) c.319-53_319-52insGTGGGGGGGGGGGGGG (n.319-53_319-52insGTGGGGGGGGGGGGGG) c.-27-53_-27-52insGTGGGGGGGGGGGGGG (n.-27-53_-27-52insGTGGGGGGGGGGGGGG) c.95-53_95-52insGTGGGGGGGGGGGGGG (n.95-53_95-52insGTGGGGGGGGGGGGGG) c.687-8087_687-8086insGTGGGGGGGGGGGGGG (n.687-8087_687-8086insGTGGGGGGGGGGGGGG) c.1297-53_1297-52insGTGGGGGGGGGGGGGG (n.1297-53_1297-52insGTGGGGGGGGGGGGGG) n.2534-53_2534-52insGTGGGGGGGGGGGGGG n.995-2590_995-2589insGTGGGGGGGGGGGGGG | |
| 9 | g.133436776_133436777insGGGGCGGGGGGGGGGGG | CA2692369455 | ADAMTS13 | c.1309-53_1309-52insGGGGCGGGGGGGGGGGG (n.1309-53_1309-52insGGGGCGGGGGGGGGGGG) c.1216-53_1216-52insGGGGCGGGGGGGGGGGG (n.1216-53_1216-52insGGGGCGGGGGGGGGGGG) c.565-53_565-52insGGGGCGGGGGGGGGGGG (n.565-53_565-52insGGGGCGGGGGGGGGGGG) c.*113-53_*113-52insGGGGCGGGGGGGGGGGG (n.*113-53_*113-52insGGGGCGGGGGGGGGGGG) n.974-2590_974-2589insGGGGCGGGGGGGGGGGG c.*593-53_*593-52insGGGGCGGGGGGGGGGGG (n.*593-53_*593-52insGGGGCGGGGGGGGGGGG) n.993-2590_993-2589insGGGGCGGGGGGGGGGGG c.919-53_919-52insGGGGCGGGGGGGGGGGG (n.919-53_919-52insGGGGCGGGGGGGGGGGG) c.325-53_325-52insGGGGCGGGGGGGGGGGG (n.325-53_325-52insGGGGCGGGGGGGGGGGG) c.319-53_319-52insGGGGCGGGGGGGGGGGG (n.319-53_319-52insGGGGCGGGGGGGGGGGG) c.-27-53_-27-52insGGGGCGGGGGGGGGGGG (n.-27-53_-27-52insGGGGCGGGGGGGGGGGG) c.95-53_95-52insGGGGCGGGGGGGGGGGG (n.95-53_95-52insGGGGCGGGGGGGGGGGG) c.687-8087_687-8086insGGGGCGGGGGGGGGGGG (n.687-8087_687-8086insGGGGCGGGGGGGGGGGG) c.1297-53_1297-52insGGGGCGGGGGGGGGGGG (n.1297-53_1297-52insGGGGCGGGGGGGGGGGG) n.2534-53_2534-52insGGGGCGGGGGGGGGGGG n.995-2590_995-2589insGGGGCGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGG | CA2692369255 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGC | CA2692369282 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGC (n.1309-53_1309-52insGGGGGGGGGGGGGGGGC) c.1216-53_1216-52insGGGGGGGGGGGGGGGGC (n.1216-53_1216-52insGGGGGGGGGGGGGGGGC) c.565-53_565-52insGGGGGGGGGGGGGGGGC (n.565-53_565-52insGGGGGGGGGGGGGGGGC) c.*113-53_*113-52insGGGGGGGGGGGGGGGGC (n.*113-53_*113-52insGGGGGGGGGGGGGGGGC) n.974-2590_974-2589insGGGGGGGGGGGGGGGGC c.*593-53_*593-52insGGGGGGGGGGGGGGGGC (n.*593-53_*593-52insGGGGGGGGGGGGGGGGC) n.993-2590_993-2589insGGGGGGGGGGGGGGGGC c.919-53_919-52insGGGGGGGGGGGGGGGGC (n.919-53_919-52insGGGGGGGGGGGGGGGGC) c.325-53_325-52insGGGGGGGGGGGGGGGGC (n.325-53_325-52insGGGGGGGGGGGGGGGGC) c.319-53_319-52insGGGGGGGGGGGGGGGGC (n.319-53_319-52insGGGGGGGGGGGGGGGGC) c.-27-53_-27-52insGGGGGGGGGGGGGGGGC (n.-27-53_-27-52insGGGGGGGGGGGGGGGGC) c.95-53_95-52insGGGGGGGGGGGGGGGGC (n.95-53_95-52insGGGGGGGGGGGGGGGGC) c.687-8087_687-8086insGGGGGGGGGGGGGGGGC (n.687-8087_687-8086insGGGGGGGGGGGGGGGGC) c.1297-53_1297-52insGGGGGGGGGGGGGGGGC (n.1297-53_1297-52insGGGGGGGGGGGGGGGGC) n.2534-53_2534-52insGGGGGGGGGGGGGGGGC n.995-2590_995-2589insGGGGGGGGGGGGGGGGC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGC | CA2692369275 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGC (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGC) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGC (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGC) c.565-53_565-52insGGGGGGGGGGGGGGGGGC (n.565-53_565-52insGGGGGGGGGGGGGGGGGC) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGC (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGC) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGC c.*593-53_*593-52insGGGGGGGGGGGGGGGGGC (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGC) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGC c.919-53_919-52insGGGGGGGGGGGGGGGGGC (n.919-53_919-52insGGGGGGGGGGGGGGGGGC) c.325-53_325-52insGGGGGGGGGGGGGGGGGC (n.325-53_325-52insGGGGGGGGGGGGGGGGGC) c.319-53_319-52insGGGGGGGGGGGGGGGGGC (n.319-53_319-52insGGGGGGGGGGGGGGGGGC) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGC (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGC) c.95-53_95-52insGGGGGGGGGGGGGGGGGC (n.95-53_95-52insGGGGGGGGGGGGGGGGGC) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGC (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGC) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGC (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGC) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGC n.995-2590_995-2589insGGGGGGGGGGGGGGGGGC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGG | CA2692369242 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGCGGGGGGGGGGGGC | CA2692369462 | ADAMTS13 | c.1309-53_1309-52insGGGGCGGGGGGGGGGGGC (n.1309-53_1309-52insGGGGCGGGGGGGGGGGGC) c.1216-53_1216-52insGGGGCGGGGGGGGGGGGC (n.1216-53_1216-52insGGGGCGGGGGGGGGGGGC) c.565-53_565-52insGGGGCGGGGGGGGGGGGC (n.565-53_565-52insGGGGCGGGGGGGGGGGGC) c.*113-53_*113-52insGGGGCGGGGGGGGGGGGC (n.*113-53_*113-52insGGGGCGGGGGGGGGGGGC) n.974-2590_974-2589insGGGGCGGGGGGGGGGGGC c.*593-53_*593-52insGGGGCGGGGGGGGGGGGC (n.*593-53_*593-52insGGGGCGGGGGGGGGGGGC) n.993-2590_993-2589insGGGGCGGGGGGGGGGGGC c.919-53_919-52insGGGGCGGGGGGGGGGGGC (n.919-53_919-52insGGGGCGGGGGGGGGGGGC) c.325-53_325-52insGGGGCGGGGGGGGGGGGC (n.325-53_325-52insGGGGCGGGGGGGGGGGGC) c.319-53_319-52insGGGGCGGGGGGGGGGGGC (n.319-53_319-52insGGGGCGGGGGGGGGGGGC) c.-27-53_-27-52insGGGGCGGGGGGGGGGGGC (n.-27-53_-27-52insGGGGCGGGGGGGGGGGGC) c.95-53_95-52insGGGGCGGGGGGGGGGGGC (n.95-53_95-52insGGGGCGGGGGGGGGGGGC) c.687-8087_687-8086insGGGGCGGGGGGGGGGGGC (n.687-8087_687-8086insGGGGCGGGGGGGGGGGGC) c.1297-53_1297-52insGGGGCGGGGGGGGGGGGC (n.1297-53_1297-52insGGGGCGGGGGGGGGGGGC) n.2534-53_2534-52insGGGGCGGGGGGGGGGGGC n.995-2590_995-2589insGGGGCGGGGGGGGGGGGC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGCG | CA2692369280 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGCG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGCG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGCG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGCG) c.565-53_565-52insGGGGGGGGGGGGGGGGCG (n.565-53_565-52insGGGGGGGGGGGGGGGGCG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGCG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGCG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGCG c.*593-53_*593-52insGGGGGGGGGGGGGGGGCG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGCG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGCG c.919-53_919-52insGGGGGGGGGGGGGGGGCG (n.919-53_919-52insGGGGGGGGGGGGGGGGCG) c.325-53_325-52insGGGGGGGGGGGGGGGGCG (n.325-53_325-52insGGGGGGGGGGGGGGGGCG) c.319-53_319-52insGGGGGGGGGGGGGGGGCG (n.319-53_319-52insGGGGGGGGGGGGGGGGCG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGCG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGCG) c.95-53_95-52insGGGGGGGGGGGGGGGGCG (n.95-53_95-52insGGGGGGGGGGGGGGGGCG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGCG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGCG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGCG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGCG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGCG n.995-2590_995-2589insGGGGGGGGGGGGGGGGCG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGCC | CA2692369281 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGCC (n.1309-53_1309-52insGGGGGGGGGGGGGGGGCC) c.1216-53_1216-52insGGGGGGGGGGGGGGGGCC (n.1216-53_1216-52insGGGGGGGGGGGGGGGGCC) c.565-53_565-52insGGGGGGGGGGGGGGGGCC (n.565-53_565-52insGGGGGGGGGGGGGGGGCC) c.*113-53_*113-52insGGGGGGGGGGGGGGGGCC (n.*113-53_*113-52insGGGGGGGGGGGGGGGGCC) n.974-2590_974-2589insGGGGGGGGGGGGGGGGCC c.*593-53_*593-52insGGGGGGGGGGGGGGGGCC (n.*593-53_*593-52insGGGGGGGGGGGGGGGGCC) n.993-2590_993-2589insGGGGGGGGGGGGGGGGCC c.919-53_919-52insGGGGGGGGGGGGGGGGCC (n.919-53_919-52insGGGGGGGGGGGGGGGGCC) c.325-53_325-52insGGGGGGGGGGGGGGGGCC (n.325-53_325-52insGGGGGGGGGGGGGGGGCC) c.319-53_319-52insGGGGGGGGGGGGGGGGCC (n.319-53_319-52insGGGGGGGGGGGGGGGGCC) c.-27-53_-27-52insGGGGGGGGGGGGGGGGCC (n.-27-53_-27-52insGGGGGGGGGGGGGGGGCC) c.95-53_95-52insGGGGGGGGGGGGGGGGCC (n.95-53_95-52insGGGGGGGGGGGGGGGGCC) c.687-8087_687-8086insGGGGGGGGGGGGGGGGCC (n.687-8087_687-8086insGGGGGGGGGGGGGGGGCC) c.1297-53_1297-52insGGGGGGGGGGGGGGGGCC (n.1297-53_1297-52insGGGGGGGGGGGGGGGGCC) n.2534-53_2534-52insGGGGGGGGGGGGGGGGCC n.995-2590_995-2589insGGGGGGGGGGGGGGGGCC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGCCGGGGGGGGGG | CA2786169537 | ADAMTS13 | c.1309-53_1309-52insGGGGGGCCGGGGGGGGGG (n.1309-53_1309-52insGGGGGGCCGGGGGGGGGG) c.1216-53_1216-52insGGGGGGCCGGGGGGGGGG (n.1216-53_1216-52insGGGGGGCCGGGGGGGGGG) c.565-53_565-52insGGGGGGCCGGGGGGGGGG (n.565-53_565-52insGGGGGGCCGGGGGGGGGG) c.*113-53_*113-52insGGGGGGCCGGGGGGGGGG (n.*113-53_*113-52insGGGGGGCCGGGGGGGGGG) n.974-2590_974-2589insGGGGGGCCGGGGGGGGGG c.*593-53_*593-52insGGGGGGCCGGGGGGGGGG (n.*593-53_*593-52insGGGGGGCCGGGGGGGGGG) n.993-2590_993-2589insGGGGGGCCGGGGGGGGGG c.919-53_919-52insGGGGGGCCGGGGGGGGGG (n.919-53_919-52insGGGGGGCCGGGGGGGGGG) c.325-53_325-52insGGGGGGCCGGGGGGGGGG (n.325-53_325-52insGGGGGGCCGGGGGGGGGG) c.319-53_319-52insGGGGGGCCGGGGGGGGGG (n.319-53_319-52insGGGGGGCCGGGGGGGGGG) c.-27-53_-27-52insGGGGGGCCGGGGGGGGGG (n.-27-53_-27-52insGGGGGGCCGGGGGGGGGG) c.95-53_95-52insGGGGGGCCGGGGGGGGGG (n.95-53_95-52insGGGGGGCCGGGGGGGGGG) c.687-8087_687-8086insGGGGGGCCGGGGGGGGGG (n.687-8087_687-8086insGGGGGGCCGGGGGGGGGG) c.1297-53_1297-52insGGGGGGCCGGGGGGGGGG (n.1297-53_1297-52insGGGGGGCCGGGGGGGGGG) n.2534-53_2534-52insGGGGGGCCGGGGGGGGGG n.995-2590_995-2589insGGGGGGCCGGGGGGGGGG | |
| 9 | g.133436776_133436777insGGGGGGGGGGCGGGGGGG | CA2692369593 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGCGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGCGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGCGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGCGGGGGGG) c.565-53_565-52insGGGGGGGGGGCGGGGGGG (n.565-53_565-52insGGGGGGGGGGCGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGCGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGCGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGCGGGGGGG c.*593-53_*593-52insGGGGGGGGGGCGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGCGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGCGGGGGGG c.919-53_919-52insGGGGGGGGGGCGGGGGGG (n.919-53_919-52insGGGGGGGGGGCGGGGGGG) c.325-53_325-52insGGGGGGGGGGCGGGGGGG (n.325-53_325-52insGGGGGGGGGGCGGGGGGG) c.319-53_319-52insGGGGGGGGGGCGGGGGGG (n.319-53_319-52insGGGGGGGGGGCGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGCGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGCGGGGGGG) c.95-53_95-52insGGGGGGGGGGCGGGGGGG (n.95-53_95-52insGGGGGGGGGGCGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGCGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGCGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGCGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGCGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGCGGGGGGG n.995-2590_995-2589insGGGGGGGGGGCGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGCGGGGGG | CA2692369631 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGCGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGCGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGCGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGCGGGGGG) c.565-53_565-52insGGGGGGGGGGGCGGGGGG (n.565-53_565-52insGGGGGGGGGGGCGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGCGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGCGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGCGGGGGG c.*593-53_*593-52insGGGGGGGGGGGCGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGCGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGCGGGGGG c.919-53_919-52insGGGGGGGGGGGCGGGGGG (n.919-53_919-52insGGGGGGGGGGGCGGGGGG) c.325-53_325-52insGGGGGGGGGGGCGGGGGG (n.325-53_325-52insGGGGGGGGGGGCGGGGGG) c.319-53_319-52insGGGGGGGGGGGCGGGGGG (n.319-53_319-52insGGGGGGGGGGGCGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGCGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGCGGGGGG) c.95-53_95-52insGGGGGGGGGGGCGGGGGG (n.95-53_95-52insGGGGGGGGGGGCGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGCGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGCGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGCGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGCGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGCGGGGGG n.995-2590_995-2589insGGGGGGGGGGGCGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGCGGGGGGG | CA2692369635 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGCGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGCGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGCGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGCGGGGGGG) c.565-53_565-52insGGGGGGGGGGGCGGGGGGG (n.565-53_565-52insGGGGGGGGGGGCGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGCGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGCGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGCGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGCGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGCGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGCGGGGGGG c.919-53_919-52insGGGGGGGGGGGCGGGGGGG (n.919-53_919-52insGGGGGGGGGGGCGGGGGGG) c.325-53_325-52insGGGGGGGGGGGCGGGGGGG (n.325-53_325-52insGGGGGGGGGGGCGGGGGGG) c.319-53_319-52insGGGGGGGGGGGCGGGGGGG (n.319-53_319-52insGGGGGGGGGGGCGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGCGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGCGGGGGGG) c.95-53_95-52insGGGGGGGGGGGCGGGGGGG (n.95-53_95-52insGGGGGGGGGGGCGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGCGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGCGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGCGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGCGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGCGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGCGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGCGGGG | CA2692369286 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGCGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGCGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGCGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGCGGGG) c.565-53_565-52insGGGGGGGGGGGGGGCGGGG (n.565-53_565-52insGGGGGGGGGGGGGGCGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGCGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGCGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGCGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGCGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGCGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGCGGGG c.919-53_919-52insGGGGGGGGGGGGGGCGGGG (n.919-53_919-52insGGGGGGGGGGGGGGCGGGG) c.325-53_325-52insGGGGGGGGGGGGGGCGGGG (n.325-53_325-52insGGGGGGGGGGGGGGCGGGG) c.319-53_319-52insGGGGGGGGGGGGGGCGGGG (n.319-53_319-52insGGGGGGGGGGGGGGCGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGCGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGCGGGG) c.95-53_95-52insGGGGGGGGGGGGGGCGGGG (n.95-53_95-52insGGGGGGGGGGGGGGCGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGCGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGCGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGCGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGCGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGCGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGCGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGC | CA2692369245 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGC (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGC) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGC (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGC) c.565-53_565-52insGGGGGGGGGGGGGGGGGGC (n.565-53_565-52insGGGGGGGGGGGGGGGGGGC) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGC (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGC) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGC c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGC (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGC) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGC c.919-53_919-52insGGGGGGGGGGGGGGGGGGC (n.919-53_919-52insGGGGGGGGGGGGGGGGGGC) c.325-53_325-52insGGGGGGGGGGGGGGGGGGC (n.325-53_325-52insGGGGGGGGGGGGGGGGGGC) c.319-53_319-52insGGGGGGGGGGGGGGGGGGC (n.319-53_319-52insGGGGGGGGGGGGGGGGGGC) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGC (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGC) c.95-53_95-52insGGGGGGGGGGGGGGGGGGC (n.95-53_95-52insGGGGGGGGGGGGGGGGGGC) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGC (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGC) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGC (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGC) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGC n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGCGG | CA2692369279 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGCGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGCGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGCGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGCGG) c.565-53_565-52insGGGGGGGGGGGGGGGGCGG (n.565-53_565-52insGGGGGGGGGGGGGGGGCGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGCGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGCGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGCGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGCGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGCGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGCGG c.919-53_919-52insGGGGGGGGGGGGGGGGCGG (n.919-53_919-52insGGGGGGGGGGGGGGGGCGG) c.325-53_325-52insGGGGGGGGGGGGGGGGCGG (n.325-53_325-52insGGGGGGGGGGGGGGGGCGG) c.319-53_319-52insGGGGGGGGGGGGGGGGCGG (n.319-53_319-52insGGGGGGGGGGGGGGGGCGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGCGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGCGG) c.95-53_95-52insGGGGGGGGGGGGGGGGCGG (n.95-53_95-52insGGGGGGGGGGGGGGGGCGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGCGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGCGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGCGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGCGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGCGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGCGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGG | CA2692369250 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGCC | CA2692369233 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGCC (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGCC) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGCC (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGCC) c.565-53_565-52insGGGGGGGGGGGGGGGGGCC (n.565-53_565-52insGGGGGGGGGGGGGGGGGCC) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGCC (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGCC) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGCC c.*593-53_*593-52insGGGGGGGGGGGGGGGGGCC (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGCC) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGCC c.919-53_919-52insGGGGGGGGGGGGGGGGGCC (n.919-53_919-52insGGGGGGGGGGGGGGGGGCC) c.325-53_325-52insGGGGGGGGGGGGGGGGGCC (n.325-53_325-52insGGGGGGGGGGGGGGGGGCC) c.319-53_319-52insGGGGGGGGGGGGGGGGGCC (n.319-53_319-52insGGGGGGGGGGGGGGGGGCC) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGCC (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGCC) c.95-53_95-52insGGGGGGGGGGGGGGGGGCC (n.95-53_95-52insGGGGGGGGGGGGGGGGGCC) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGCC (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGCC) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGCC (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGCC) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGCC n.995-2590_995-2589insGGGGGGGGGGGGGGGGGCC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGCGGGCG | CA2692369287 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGCGGGCG (n.1309-53_1309-52insGGGGGGGGGGGGGGCGGGCG) c.1216-53_1216-52insGGGGGGGGGGGGGGCGGGCG (n.1216-53_1216-52insGGGGGGGGGGGGGGCGGGCG) c.565-53_565-52insGGGGGGGGGGGGGGCGGGCG (n.565-53_565-52insGGGGGGGGGGGGGGCGGGCG) c.*113-53_*113-52insGGGGGGGGGGGGGGCGGGCG (n.*113-53_*113-52insGGGGGGGGGGGGGGCGGGCG) n.974-2590_974-2589insGGGGGGGGGGGGGGCGGGCG c.*593-53_*593-52insGGGGGGGGGGGGGGCGGGCG (n.*593-53_*593-52insGGGGGGGGGGGGGGCGGGCG) n.993-2590_993-2589insGGGGGGGGGGGGGGCGGGCG c.919-53_919-52insGGGGGGGGGGGGGGCGGGCG (n.919-53_919-52insGGGGGGGGGGGGGGCGGGCG) c.325-53_325-52insGGGGGGGGGGGGGGCGGGCG (n.325-53_325-52insGGGGGGGGGGGGGGCGGGCG) c.319-53_319-52insGGGGGGGGGGGGGGCGGGCG (n.319-53_319-52insGGGGGGGGGGGGGGCGGGCG) c.-27-53_-27-52insGGGGGGGGGGGGGGCGGGCG (n.-27-53_-27-52insGGGGGGGGGGGGGGCGGGCG) c.95-53_95-52insGGGGGGGGGGGGGGCGGGCG (n.95-53_95-52insGGGGGGGGGGGGGGCGGGCG) c.687-8087_687-8086insGGGGGGGGGGGGGGCGGGCG (n.687-8087_687-8086insGGGGGGGGGGGGGGCGGGCG) c.1297-53_1297-52insGGGGGGGGGGGGGGCGGGCG (n.1297-53_1297-52insGGGGGGGGGGGGGGCGGGCG) n.2534-53_2534-52insGGGGGGGGGGGGGGCGGGCG n.995-2590_995-2589insGGGGGGGGGGGGGGCGGGCG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGCGG | CA2692369238 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGCGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGCGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGCGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGCGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGCGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGCGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGCGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGCGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGCGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGCGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGCGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGCGG c.919-53_919-52insGGGGGGGGGGGGGGGGGCGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGCGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGCGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGCGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGCGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGCGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGCGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGCGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGCGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGCGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGCGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGCGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGCGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGCGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGCGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGCGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGG | CA2692369257 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGCGGGGGGGGGGGGGGGGG | CA2692369464 | ADAMTS13 | c.1309-53_1309-52insGGGGCGGGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGCGGGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGCGGGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGCGGGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGCGGGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGCGGGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGCGGGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGCGGGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGCGGGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGCGGGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGCGGGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGCGGGGGGGGGGGGGGGGG c.919-53_919-52insGGGGCGGGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGCGGGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGCGGGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGCGGGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGCGGGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGCGGGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGCGGGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGCGGGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGCGGGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGCGGGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGCGGGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGCGGGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGCGGGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGCGGGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGCGGGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGCGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGG | CA2692369261 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGCGG | CA2692369208 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGCGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGCGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGCGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGCGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGCGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGCGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGCGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGCGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGCGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGCGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGCGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGCGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGGCGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGCGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGCGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGCGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGCGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGCGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGCGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGCGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGCGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGCGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGCGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGCGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGCGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGCGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGCGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGCGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGCG | CA2692369258 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGCG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGCG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGCG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGCG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGCG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGCG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGCG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGCG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGCG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGCG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGCG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGCG c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGCG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGCG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGCG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGCG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGCG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGCG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGCG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGCG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGCG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGCG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGCG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGCG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGCG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGCG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGCG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGCG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGCGGGGGGGGGGG | CA2692369641 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGCGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGCGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGCGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGCGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGCGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGCGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGCGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGCGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGCGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGCGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGCGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGCGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGCGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGCGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGCGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGCGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGCGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGCGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGCGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGCGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGCGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGCGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGCGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGCGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGCGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGCGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGCGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGCGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGG | CA2692369266 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGC | CA2692369263 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGC (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGC) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGC (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGC) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGC (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGC) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGC (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGC) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGC c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGC (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGC) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGC c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGC (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGC) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGC (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGC) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGC (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGC) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGC (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGC) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGC (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGC) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGC (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGC) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGC (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGC) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGC n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGCC | CA2692369259 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGCC (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGCC) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGCC (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGCC) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGCC (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGCC) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGCC (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGCC) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGCC c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGCC (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGCC) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGCC c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGCC (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGCC) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGCC (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGCC) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGCC (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGCC) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGCC (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGCC) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGCC (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGCC) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGCC (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGCC) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGCC (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGCC) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGCC n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGCC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGG | CA2692369274 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692369412 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGGC | CA2692369339 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGC (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGC) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGC (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGC) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGC (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGC) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGC (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGC) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGGC c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGC (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGC) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGGC c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGC (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGC) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGC (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGC) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGC (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGC) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGC (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGC) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGC (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGC) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGC (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGC) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGC (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGC) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGGC n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGGC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGCGGGGGG | CA2692369247 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGCGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGCGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGCGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGCGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGCGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGCGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGCGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGCGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGCGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGCGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGCGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGCGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGCGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGCGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGCGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGCGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGCGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGCGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGCGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGCGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGCGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGCGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGCGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGCGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGCGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGCGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGCGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGCGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692369401 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGCGGG | CA2692369268 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGCGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGCGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGCGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGCGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGCGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGCGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGCGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGCGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGCGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGCGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGCGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGCGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGCGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGCGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGCGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGCGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGCGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGCGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGCGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGCGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGCGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGCGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGCGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGCGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGCGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGCGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGCGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGCGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGCGGGGGGGGGGGGGGGCC | CA2692369659 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGCGGGGGGGGGGGGGGGCC (n.1309-53_1309-52insGGGGGGGGGCGGGGGGGGGGGGGGGCC) c.1216-53_1216-52insGGGGGGGGGCGGGGGGGGGGGGGGGCC (n.1216-53_1216-52insGGGGGGGGGCGGGGGGGGGGGGGGGCC) c.565-53_565-52insGGGGGGGGGCGGGGGGGGGGGGGGGCC (n.565-53_565-52insGGGGGGGGGCGGGGGGGGGGGGGGGCC) c.*113-53_*113-52insGGGGGGGGGCGGGGGGGGGGGGGGGCC (n.*113-53_*113-52insGGGGGGGGGCGGGGGGGGGGGGGGGCC) n.974-2590_974-2589insGGGGGGGGGCGGGGGGGGGGGGGGGCC c.*593-53_*593-52insGGGGGGGGGCGGGGGGGGGGGGGGGCC (n.*593-53_*593-52insGGGGGGGGGCGGGGGGGGGGGGGGGCC) n.993-2590_993-2589insGGGGGGGGGCGGGGGGGGGGGGGGGCC c.919-53_919-52insGGGGGGGGGCGGGGGGGGGGGGGGGCC (n.919-53_919-52insGGGGGGGGGCGGGGGGGGGGGGGGGCC) c.325-53_325-52insGGGGGGGGGCGGGGGGGGGGGGGGGCC (n.325-53_325-52insGGGGGGGGGCGGGGGGGGGGGGGGGCC) c.319-53_319-52insGGGGGGGGGCGGGGGGGGGGGGGGGCC (n.319-53_319-52insGGGGGGGGGCGGGGGGGGGGGGGGGCC) c.-27-53_-27-52insGGGGGGGGGCGGGGGGGGGGGGGGGCC (n.-27-53_-27-52insGGGGGGGGGCGGGGGGGGGGGGGGGCC) c.95-53_95-52insGGGGGGGGGCGGGGGGGGGGGGGGGCC (n.95-53_95-52insGGGGGGGGGCGGGGGGGGGGGGGGGCC) c.687-8087_687-8086insGGGGGGGGGCGGGGGGGGGGGGGGGCC (n.687-8087_687-8086insGGGGGGGGGCGGGGGGGGGGGGGGGCC) c.1297-53_1297-52insGGGGGGGGGCGGGGGGGGGGGGGGGCC (n.1297-53_1297-52insGGGGGGGGGCGGGGGGGGGGGGGGGCC) n.2534-53_2534-52insGGGGGGGGGCGGGGGGGGGGGGGGGCC n.995-2590_995-2589insGGGGGGGGGCGGGGGGGGGGGGGGGCC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGGGGC | CA2692369399 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGC) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGC c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGC) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGC c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGC) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGGGGC n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692369391 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGGGGGC | CA2692369386 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGC) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGC c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGC) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGC c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGC) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGC n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692369380 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGGGGCC | CA2692369394 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGCC (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGCC) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGCC (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGCC) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGCC (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGCC) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGCC (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGCC) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGCC c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGCC (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGCC) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGCC c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGCC (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGCC) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGCC (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGCC) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGCC (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGCC) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGCC (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGCC) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGCC (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGCC) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGCC (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGCC) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGCC (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGCC) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGGGGCC n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGCC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692369370 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC | CA2786169523 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC | |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG | CA2692369278 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG) c.565-53_565-52insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG (n.565-53_565-52insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG c.919-53_919-52insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG (n.919-53_919-52insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG) c.325-53_325-52insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG (n.325-53_325-52insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG) c.319-53_319-52insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG (n.319-53_319-52insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG) c.95-53_95-52insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG (n.95-53_95-52insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGCGGGGGGGGGCGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC | CA2692369368 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG | CA2692369270 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692369363 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG | CA2692369276 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG | CA2692369277 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2786169527 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC | CA2692369373 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCC | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692369356 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG | CA2692369304 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG | CA2786169524 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGG | |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692369350 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2786169528 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692369343 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692369644 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692369317 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692369292 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692369294 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692369302 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436776_133436777insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2786169529 | ADAMTS13 | c.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-53_1309-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-53_1216-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-53_565-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-53_*113-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2590_974-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-53_*593-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2590_993-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-53_919-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-53_325-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-53_319-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-53_-27-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-53_95-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8087_687-8086insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-53_1297-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-53_2534-52insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2590_995-2589insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | |
| 9 | g.133436777C= | CA1882673064 | ADAMTS13 | c.1309-52C= (n.1309-52C=) c.1216-52C= (n.1216-52C=) c.565-52C= (n.565-52C=) c.*113-52C= (n.*113-52C=) n.974-2589C= c.*593-52C= (n.*593-52C=) n.993-2589C= c.919-52C= (n.919-52C=) c.325-52C= (n.325-52C=) c.319-52C= (n.319-52C=) c.-27-52C= (n.-27-52C=) c.95-52C= (n.95-52C=) c.687-8086C= (n.687-8086C=) c.1297-52C= (n.1297-52C=) n.2534-52C= n.995-2589C= | |
| 9 | g.133436777C>G | CA2579500358 | ADAMTS13 | c.1309-52C>G (n.1309-52C>G) c.1216-52C>G (n.1216-52C>G) c.565-52C>G (n.565-52C>G) c.*113-52C>G (n.*113-52C>G) n.974-2589C>G c.*593-52C>G (n.*593-52C>G) n.993-2589C>G c.919-52C>G (n.919-52C>G) c.325-52C>G (n.325-52C>G) c.319-52C>G (n.319-52C>G) c.-27-52C>G (n.-27-52C>G) c.95-52C>G (n.95-52C>G) c.687-8086C>G (n.687-8086C>G) c.1297-52C>G (n.1297-52C>G) n.2534-52C>G n.995-2589C>G | gnomAD v4 |
| 9 | g.133436777C>T | CA860755337 | ADAMTS13 | c.1309-52C>T (n.1309-52C>T) c.1216-52C>T (n.1216-52C>T) c.565-52C>T (n.565-52C>T) c.*113-52C>T (n.*113-52C>T) n.974-2589C>T c.*593-52C>T (n.*593-52C>T) n.993-2589C>T c.919-52C>T (n.919-52C>T) c.325-52C>T (n.325-52C>T) c.319-52C>T (n.319-52C>T) c.-27-52C>T (n.-27-52C>T) c.95-52C>T (n.95-52C>T) c.687-8086C>T (n.687-8086C>T) c.1297-52C>T (n.1297-52C>T) n.2534-52C>T n.995-2589C>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436777_133436778insCC | CA2692369483 | ADAMTS13 | c.1309-52_1309-51insCC (n.1309-52_1309-51insCC) c.1216-52_1216-51insCC (n.1216-52_1216-51insCC) c.565-52_565-51insCC (n.565-52_565-51insCC) c.*113-52_*113-51insCC (n.*113-52_*113-51insCC) n.974-2589_974-2588insCC c.*593-52_*593-51insCC (n.*593-52_*593-51insCC) n.993-2589_993-2588insCC c.919-52_919-51insCC (n.919-52_919-51insCC) c.325-52_325-51insCC (n.325-52_325-51insCC) c.319-52_319-51insCC (n.319-52_319-51insCC) c.-27-52_-27-51insCC (n.-27-52_-27-51insCC) c.95-52_95-51insCC (n.95-52_95-51insCC) c.687-8086_687-8085insCC (n.687-8086_687-8085insCC) c.1297-52_1297-51insCC (n.1297-52_1297-51insCC) n.2534-52_2534-51insCC n.995-2589_995-2588insCC | gnomAD v4 |
| 9 | g.133436777_133436778insGGGGGC | CA2692369507 | ADAMTS13 | c.1309-52_1309-51insGGGGGC (n.1309-52_1309-51insGGGGGC) c.1216-52_1216-51insGGGGGC (n.1216-52_1216-51insGGGGGC) c.565-52_565-51insGGGGGC (n.565-52_565-51insGGGGGC) c.*113-52_*113-51insGGGGGC (n.*113-52_*113-51insGGGGGC) n.974-2589_974-2588insGGGGGC c.*593-52_*593-51insGGGGGC (n.*593-52_*593-51insGGGGGC) n.993-2589_993-2588insGGGGGC c.919-52_919-51insGGGGGC (n.919-52_919-51insGGGGGC) c.325-52_325-51insGGGGGC (n.325-52_325-51insGGGGGC) c.319-52_319-51insGGGGGC (n.319-52_319-51insGGGGGC) c.-27-52_-27-51insGGGGGC (n.-27-52_-27-51insGGGGGC) c.95-52_95-51insGGGGGC (n.95-52_95-51insGGGGGC) c.687-8086_687-8085insGGGGGC (n.687-8086_687-8085insGGGGGC) c.1297-52_1297-51insGGGGGC (n.1297-52_1297-51insGGGGGC) n.2534-52_2534-51insGGGGGC n.995-2589_995-2588insGGGGGC | gnomAD v4 |
| 9 | g.133436777_133436778insCCGCGGC | CA2692369479 | ADAMTS13 | c.1309-52_1309-51insCCGCGGC (n.1309-52_1309-51insCCGCGGC) c.1216-52_1216-51insCCGCGGC (n.1216-52_1216-51insCCGCGGC) c.565-52_565-51insCCGCGGC (n.565-52_565-51insCCGCGGC) c.*113-52_*113-51insCCGCGGC (n.*113-52_*113-51insCCGCGGC) n.974-2589_974-2588insCCGCGGC c.*593-52_*593-51insCCGCGGC (n.*593-52_*593-51insCCGCGGC) n.993-2589_993-2588insCCGCGGC c.919-52_919-51insCCGCGGC (n.919-52_919-51insCCGCGGC) c.325-52_325-51insCCGCGGC (n.325-52_325-51insCCGCGGC) c.319-52_319-51insCCGCGGC (n.319-52_319-51insCCGCGGC) c.-27-52_-27-51insCCGCGGC (n.-27-52_-27-51insCCGCGGC) c.95-52_95-51insCCGCGGC (n.95-52_95-51insCCGCGGC) c.687-8086_687-8085insCCGCGGC (n.687-8086_687-8085insCCGCGGC) c.1297-52_1297-51insCCGCGGC (n.1297-52_1297-51insCCGCGGC) n.2534-52_2534-51insCCGCGGC n.995-2589_995-2588insCCGCGGC | gnomAD v4 |
| 9 | g.133436777_133436778insGGGCGGC | CA2692369491 | ADAMTS13 | c.1309-52_1309-51insGGGCGGC (n.1309-52_1309-51insGGGCGGC) c.1216-52_1216-51insGGGCGGC (n.1216-52_1216-51insGGGCGGC) c.565-52_565-51insGGGCGGC (n.565-52_565-51insGGGCGGC) c.*113-52_*113-51insGGGCGGC (n.*113-52_*113-51insGGGCGGC) n.974-2589_974-2588insGGGCGGC c.*593-52_*593-51insGGGCGGC (n.*593-52_*593-51insGGGCGGC) n.993-2589_993-2588insGGGCGGC c.919-52_919-51insGGGCGGC (n.919-52_919-51insGGGCGGC) c.325-52_325-51insGGGCGGC (n.325-52_325-51insGGGCGGC) c.319-52_319-51insGGGCGGC (n.319-52_319-51insGGGCGGC) c.-27-52_-27-51insGGGCGGC (n.-27-52_-27-51insGGGCGGC) c.95-52_95-51insGGGCGGC (n.95-52_95-51insGGGCGGC) c.687-8086_687-8085insGGGCGGC (n.687-8086_687-8085insGGGCGGC) c.1297-52_1297-51insGGGCGGC (n.1297-52_1297-51insGGGCGGC) n.2534-52_2534-51insGGGCGGC n.995-2589_995-2588insGGGCGGC | gnomAD v4 |
| 9 | g.133436777_133436778insGGGGGGC | CA2692369511 | ADAMTS13 | c.1309-52_1309-51insGGGGGGC (n.1309-52_1309-51insGGGGGGC) c.1216-52_1216-51insGGGGGGC (n.1216-52_1216-51insGGGGGGC) c.565-52_565-51insGGGGGGC (n.565-52_565-51insGGGGGGC) c.*113-52_*113-51insGGGGGGC (n.*113-52_*113-51insGGGGGGC) n.974-2589_974-2588insGGGGGGC c.*593-52_*593-51insGGGGGGC (n.*593-52_*593-51insGGGGGGC) n.993-2589_993-2588insGGGGGGC c.919-52_919-51insGGGGGGC (n.919-52_919-51insGGGGGGC) c.325-52_325-51insGGGGGGC (n.325-52_325-51insGGGGGGC) c.319-52_319-51insGGGGGGC (n.319-52_319-51insGGGGGGC) c.-27-52_-27-51insGGGGGGC (n.-27-52_-27-51insGGGGGGC) c.95-52_95-51insGGGGGGC (n.95-52_95-51insGGGGGGC) c.687-8086_687-8085insGGGGGGC (n.687-8086_687-8085insGGGGGGC) c.1297-52_1297-51insGGGGGGC (n.1297-52_1297-51insGGGGGGC) n.2534-52_2534-51insGGGGGGC n.995-2589_995-2588insGGGGGGC | gnomAD v4 |
| 9 | g.133436777_133436778insGGGCGGGC | CA2692369502 | ADAMTS13 | c.1309-52_1309-51insGGGCGGGC (n.1309-52_1309-51insGGGCGGGC) c.1216-52_1216-51insGGGCGGGC (n.1216-52_1216-51insGGGCGGGC) c.565-52_565-51insGGGCGGGC (n.565-52_565-51insGGGCGGGC) c.*113-52_*113-51insGGGCGGGC (n.*113-52_*113-51insGGGCGGGC) n.974-2589_974-2588insGGGCGGGC c.*593-52_*593-51insGGGCGGGC (n.*593-52_*593-51insGGGCGGGC) n.993-2589_993-2588insGGGCGGGC c.919-52_919-51insGGGCGGGC (n.919-52_919-51insGGGCGGGC) c.325-52_325-51insGGGCGGGC (n.325-52_325-51insGGGCGGGC) c.319-52_319-51insGGGCGGGC (n.319-52_319-51insGGGCGGGC) c.-27-52_-27-51insGGGCGGGC (n.-27-52_-27-51insGGGCGGGC) c.95-52_95-51insGGGCGGGC (n.95-52_95-51insGGGCGGGC) c.687-8086_687-8085insGGGCGGGC (n.687-8086_687-8085insGGGCGGGC) c.1297-52_1297-51insGGGCGGGC (n.1297-52_1297-51insGGGCGGGC) n.2534-52_2534-51insGGGCGGGC n.995-2589_995-2588insGGGCGGGC | gnomAD v4 |
| 9 | g.133436777_133436778insGGGGGGGC | CA2692369467 | ADAMTS13 | c.1309-52_1309-51insGGGGGGGC (n.1309-52_1309-51insGGGGGGGC) c.1216-52_1216-51insGGGGGGGC (n.1216-52_1216-51insGGGGGGGC) c.565-52_565-51insGGGGGGGC (n.565-52_565-51insGGGGGGGC) c.*113-52_*113-51insGGGGGGGC (n.*113-52_*113-51insGGGGGGGC) n.974-2589_974-2588insGGGGGGGC c.*593-52_*593-51insGGGGGGGC (n.*593-52_*593-51insGGGGGGGC) n.993-2589_993-2588insGGGGGGGC c.919-52_919-51insGGGGGGGC (n.919-52_919-51insGGGGGGGC) c.325-52_325-51insGGGGGGGC (n.325-52_325-51insGGGGGGGC) c.319-52_319-51insGGGGGGGC (n.319-52_319-51insGGGGGGGC) c.-27-52_-27-51insGGGGGGGC (n.-27-52_-27-51insGGGGGGGC) c.95-52_95-51insGGGGGGGC (n.95-52_95-51insGGGGGGGC) c.687-8086_687-8085insGGGGGGGC (n.687-8086_687-8085insGGGGGGGC) c.1297-52_1297-51insGGGGGGGC (n.1297-52_1297-51insGGGGGGGC) n.2534-52_2534-51insGGGGGGGC n.995-2589_995-2588insGGGGGGGC | gnomAD v4 |
| 9 | g.133436777_133436778insTCCCCCCC | CA2692369549 | ADAMTS13 | c.1309-52_1309-51insTCCCCCCC (n.1309-52_1309-51insTCCCCCCC) c.1216-52_1216-51insTCCCCCCC (n.1216-52_1216-51insTCCCCCCC) c.565-52_565-51insTCCCCCCC (n.565-52_565-51insTCCCCCCC) c.*113-52_*113-51insTCCCCCCC (n.*113-52_*113-51insTCCCCCCC) n.974-2589_974-2588insTCCCCCCC c.*593-52_*593-51insTCCCCCCC (n.*593-52_*593-51insTCCCCCCC) n.993-2589_993-2588insTCCCCCCC c.919-52_919-51insTCCCCCCC (n.919-52_919-51insTCCCCCCC) c.325-52_325-51insTCCCCCCC (n.325-52_325-51insTCCCCCCC) c.319-52_319-51insTCCCCCCC (n.319-52_319-51insTCCCCCCC) c.-27-52_-27-51insTCCCCCCC (n.-27-52_-27-51insTCCCCCCC) c.95-52_95-51insTCCCCCCC (n.95-52_95-51insTCCCCCCC) c.687-8086_687-8085insTCCCCCCC (n.687-8086_687-8085insTCCCCCCC) c.1297-52_1297-51insTCCCCCCC (n.1297-52_1297-51insTCCCCCCC) n.2534-52_2534-51insTCCCCCCC n.995-2589_995-2588insTCCCCCCC | gnomAD v4 |
| 9 | g.133436777_133436778insTGCCGCCC | CA2692369553 | ADAMTS13 | c.1309-52_1309-51insTGCCGCCC (n.1309-52_1309-51insTGCCGCCC) c.1216-52_1216-51insTGCCGCCC (n.1216-52_1216-51insTGCCGCCC) c.565-52_565-51insTGCCGCCC (n.565-52_565-51insTGCCGCCC) c.*113-52_*113-51insTGCCGCCC (n.*113-52_*113-51insTGCCGCCC) n.974-2589_974-2588insTGCCGCCC c.*593-52_*593-51insTGCCGCCC (n.*593-52_*593-51insTGCCGCCC) n.993-2589_993-2588insTGCCGCCC c.919-52_919-51insTGCCGCCC (n.919-52_919-51insTGCCGCCC) c.325-52_325-51insTGCCGCCC (n.325-52_325-51insTGCCGCCC) c.319-52_319-51insTGCCGCCC (n.319-52_319-51insTGCCGCCC) c.-27-52_-27-51insTGCCGCCC (n.-27-52_-27-51insTGCCGCCC) c.95-52_95-51insTGCCGCCC (n.95-52_95-51insTGCCGCCC) c.687-8086_687-8085insTGCCGCCC (n.687-8086_687-8085insTGCCGCCC) c.1297-52_1297-51insTGCCGCCC (n.1297-52_1297-51insTGCCGCCC) n.2534-52_2534-51insTGCCGCCC n.995-2589_995-2588insTGCCGCCC | gnomAD v4 |
| 9 | g.133436777_133436778insTGGGGGCC | CA2692369438 | ADAMTS13 | c.1309-52_1309-51insTGGGGGCC (n.1309-52_1309-51insTGGGGGCC) c.1216-52_1216-51insTGGGGGCC (n.1216-52_1216-51insTGGGGGCC) c.565-52_565-51insTGGGGGCC (n.565-52_565-51insTGGGGGCC) c.*113-52_*113-51insTGGGGGCC (n.*113-52_*113-51insTGGGGGCC) n.974-2589_974-2588insTGGGGGCC c.*593-52_*593-51insTGGGGGCC (n.*593-52_*593-51insTGGGGGCC) n.993-2589_993-2588insTGGGGGCC c.919-52_919-51insTGGGGGCC (n.919-52_919-51insTGGGGGCC) c.325-52_325-51insTGGGGGCC (n.325-52_325-51insTGGGGGCC) c.319-52_319-51insTGGGGGCC (n.319-52_319-51insTGGGGGCC) c.-27-52_-27-51insTGGGGGCC (n.-27-52_-27-51insTGGGGGCC) c.95-52_95-51insTGGGGGCC (n.95-52_95-51insTGGGGGCC) c.687-8086_687-8085insTGGGGGCC (n.687-8086_687-8085insTGGGGGCC) c.1297-52_1297-51insTGGGGGCC (n.1297-52_1297-51insTGGGGGCC) n.2534-52_2534-51insTGGGGGCC n.995-2589_995-2588insTGGGGGCC | gnomAD v4 |
| 9 | g.133436777_133436778insGGGGGGGGC | CA2692369520 | ADAMTS13 | c.1309-52_1309-51insGGGGGGGGC (n.1309-52_1309-51insGGGGGGGGC) c.1216-52_1216-51insGGGGGGGGC (n.1216-52_1216-51insGGGGGGGGC) c.565-52_565-51insGGGGGGGGC (n.565-52_565-51insGGGGGGGGC) c.*113-52_*113-51insGGGGGGGGC (n.*113-52_*113-51insGGGGGGGGC) n.974-2589_974-2588insGGGGGGGGC c.*593-52_*593-51insGGGGGGGGC (n.*593-52_*593-51insGGGGGGGGC) n.993-2589_993-2588insGGGGGGGGC c.919-52_919-51insGGGGGGGGC (n.919-52_919-51insGGGGGGGGC) c.325-52_325-51insGGGGGGGGC (n.325-52_325-51insGGGGGGGGC) c.319-52_319-51insGGGGGGGGC (n.319-52_319-51insGGGGGGGGC) c.-27-52_-27-51insGGGGGGGGC (n.-27-52_-27-51insGGGGGGGGC) c.95-52_95-51insGGGGGGGGC (n.95-52_95-51insGGGGGGGGC) c.687-8086_687-8085insGGGGGGGGC (n.687-8086_687-8085insGGGGGGGGC) c.1297-52_1297-51insGGGGGGGGC (n.1297-52_1297-51insGGGGGGGGC) n.2534-52_2534-51insGGGGGGGGC n.995-2589_995-2588insGGGGGGGGC | gnomAD v4 |
| 9 | g.133436777_133436778insTGGGGGGCC | CA2692369418 | ADAMTS13 | c.1309-52_1309-51insTGGGGGGCC (n.1309-52_1309-51insTGGGGGGCC) c.1216-52_1216-51insTGGGGGGCC (n.1216-52_1216-51insTGGGGGGCC) c.565-52_565-51insTGGGGGGCC (n.565-52_565-51insTGGGGGGCC) c.*113-52_*113-51insTGGGGGGCC (n.*113-52_*113-51insTGGGGGGCC) n.974-2589_974-2588insTGGGGGGCC c.*593-52_*593-51insTGGGGGGCC (n.*593-52_*593-51insTGGGGGGCC) n.993-2589_993-2588insTGGGGGGCC c.919-52_919-51insTGGGGGGCC (n.919-52_919-51insTGGGGGGCC) c.325-52_325-51insTGGGGGGCC (n.325-52_325-51insTGGGGGGCC) c.319-52_319-51insTGGGGGGCC (n.319-52_319-51insTGGGGGGCC) c.-27-52_-27-51insTGGGGGGCC (n.-27-52_-27-51insTGGGGGGCC) c.95-52_95-51insTGGGGGGCC (n.95-52_95-51insTGGGGGGCC) c.687-8086_687-8085insTGGGGGGCC (n.687-8086_687-8085insTGGGGGGCC) c.1297-52_1297-51insTGGGGGGCC (n.1297-52_1297-51insTGGGGGGCC) n.2534-52_2534-51insTGGGGGGCC n.995-2589_995-2588insTGGGGGGCC | gnomAD v4 |
| 9 | g.133436777_133436778insGGGGGGGGGC | CA2692369530 | ADAMTS13 | c.1309-52_1309-51insGGGGGGGGGC (n.1309-52_1309-51insGGGGGGGGGC) c.1216-52_1216-51insGGGGGGGGGC (n.1216-52_1216-51insGGGGGGGGGC) c.565-52_565-51insGGGGGGGGGC (n.565-52_565-51insGGGGGGGGGC) c.*113-52_*113-51insGGGGGGGGGC (n.*113-52_*113-51insGGGGGGGGGC) n.974-2589_974-2588insGGGGGGGGGC c.*593-52_*593-51insGGGGGGGGGC (n.*593-52_*593-51insGGGGGGGGGC) n.993-2589_993-2588insGGGGGGGGGC c.919-52_919-51insGGGGGGGGGC (n.919-52_919-51insGGGGGGGGGC) c.325-52_325-51insGGGGGGGGGC (n.325-52_325-51insGGGGGGGGGC) c.319-52_319-51insGGGGGGGGGC (n.319-52_319-51insGGGGGGGGGC) c.-27-52_-27-51insGGGGGGGGGC (n.-27-52_-27-51insGGGGGGGGGC) c.95-52_95-51insGGGGGGGGGC (n.95-52_95-51insGGGGGGGGGC) c.687-8086_687-8085insGGGGGGGGGC (n.687-8086_687-8085insGGGGGGGGGC) c.1297-52_1297-51insGGGGGGGGGC (n.1297-52_1297-51insGGGGGGGGGC) n.2534-52_2534-51insGGGGGGGGGC n.995-2589_995-2588insGGGGGGGGGC | gnomAD v4 |
| 9 | g.133436777_133436778insGGGGGGGGGGC | CA2692369538 | ADAMTS13 | c.1309-52_1309-51insGGGGGGGGGGC (n.1309-52_1309-51insGGGGGGGGGGC) c.1216-52_1216-51insGGGGGGGGGGC (n.1216-52_1216-51insGGGGGGGGGGC) c.565-52_565-51insGGGGGGGGGGC (n.565-52_565-51insGGGGGGGGGGC) c.*113-52_*113-51insGGGGGGGGGGC (n.*113-52_*113-51insGGGGGGGGGGC) n.974-2589_974-2588insGGGGGGGGGGC c.*593-52_*593-51insGGGGGGGGGGC (n.*593-52_*593-51insGGGGGGGGGGC) n.993-2589_993-2588insGGGGGGGGGGC c.919-52_919-51insGGGGGGGGGGC (n.919-52_919-51insGGGGGGGGGGC) c.325-52_325-51insGGGGGGGGGGC (n.325-52_325-51insGGGGGGGGGGC) c.319-52_319-51insGGGGGGGGGGC (n.319-52_319-51insGGGGGGGGGGC) c.-27-52_-27-51insGGGGGGGGGGC (n.-27-52_-27-51insGGGGGGGGGGC) c.95-52_95-51insGGGGGGGGGGC (n.95-52_95-51insGGGGGGGGGGC) c.687-8086_687-8085insGGGGGGGGGGC (n.687-8086_687-8085insGGGGGGGGGGC) c.1297-52_1297-51insGGGGGGGGGGC (n.1297-52_1297-51insGGGGGGGGGGC) n.2534-52_2534-51insGGGGGGGGGGC n.995-2589_995-2588insGGGGGGGGGGC | gnomAD v4 |
| 9 | g.133436777_133436778insGGGCGGCCCCCCC | CA2692369498 | ADAMTS13 | c.1309-52_1309-51insGGGCGGCCCCCCC (n.1309-52_1309-51insGGGCGGCCCCCCC) c.1216-52_1216-51insGGGCGGCCCCCCC (n.1216-52_1216-51insGGGCGGCCCCCCC) c.565-52_565-51insGGGCGGCCCCCCC (n.565-52_565-51insGGGCGGCCCCCCC) c.*113-52_*113-51insGGGCGGCCCCCCC (n.*113-52_*113-51insGGGCGGCCCCCCC) n.974-2589_974-2588insGGGCGGCCCCCCC c.*593-52_*593-51insGGGCGGCCCCCCC (n.*593-52_*593-51insGGGCGGCCCCCCC) n.993-2589_993-2588insGGGCGGCCCCCCC c.919-52_919-51insGGGCGGCCCCCCC (n.919-52_919-51insGGGCGGCCCCCCC) c.325-52_325-51insGGGCGGCCCCCCC (n.325-52_325-51insGGGCGGCCCCCCC) c.319-52_319-51insGGGCGGCCCCCCC (n.319-52_319-51insGGGCGGCCCCCCC) c.-27-52_-27-51insGGGCGGCCCCCCC (n.-27-52_-27-51insGGGCGGCCCCCCC) c.95-52_95-51insGGGCGGCCCCCCC (n.95-52_95-51insGGGCGGCCCCCCC) c.687-8086_687-8085insGGGCGGCCCCCCC (n.687-8086_687-8085insGGGCGGCCCCCCC) c.1297-52_1297-51insGGGCGGCCCCCCC (n.1297-52_1297-51insGGGCGGCCCCCCC) n.2534-52_2534-51insGGGCGGCCCCCCC n.995-2589_995-2588insGGGCGGCCCCCCC | gnomAD v4 |
| 9 | g.133436777_133436778insTGCCGCCCCCCCC | CA2692369562 | ADAMTS13 | c.1309-52_1309-51insTGCCGCCCCCCCC (n.1309-52_1309-51insTGCCGCCCCCCCC) c.1216-52_1216-51insTGCCGCCCCCCCC (n.1216-52_1216-51insTGCCGCCCCCCCC) c.565-52_565-51insTGCCGCCCCCCCC (n.565-52_565-51insTGCCGCCCCCCCC) c.*113-52_*113-51insTGCCGCCCCCCCC (n.*113-52_*113-51insTGCCGCCCCCCCC) n.974-2589_974-2588insTGCCGCCCCCCCC c.*593-52_*593-51insTGCCGCCCCCCCC (n.*593-52_*593-51insTGCCGCCCCCCCC) n.993-2589_993-2588insTGCCGCCCCCCCC c.919-52_919-51insTGCCGCCCCCCCC (n.919-52_919-51insTGCCGCCCCCCCC) c.325-52_325-51insTGCCGCCCCCCCC (n.325-52_325-51insTGCCGCCCCCCCC) c.319-52_319-51insTGCCGCCCCCCCC (n.319-52_319-51insTGCCGCCCCCCCC) c.-27-52_-27-51insTGCCGCCCCCCCC (n.-27-52_-27-51insTGCCGCCCCCCCC) c.95-52_95-51insTGCCGCCCCCCCC (n.95-52_95-51insTGCCGCCCCCCCC) c.687-8086_687-8085insTGCCGCCCCCCCC (n.687-8086_687-8085insTGCCGCCCCCCCC) c.1297-52_1297-51insTGCCGCCCCCCCC (n.1297-52_1297-51insTGCCGCCCCCCCC) n.2534-52_2534-51insTGCCGCCCCCCCC n.995-2589_995-2588insTGCCGCCCCCCCC | gnomAD v4 |
| 9 | g.133436777_133436778insGGGGGGGGGGGGGGGC | CA2692369544 | ADAMTS13 | c.1309-52_1309-51insGGGGGGGGGGGGGGGC (n.1309-52_1309-51insGGGGGGGGGGGGGGGC) c.1216-52_1216-51insGGGGGGGGGGGGGGGC (n.1216-52_1216-51insGGGGGGGGGGGGGGGC) c.565-52_565-51insGGGGGGGGGGGGGGGC (n.565-52_565-51insGGGGGGGGGGGGGGGC) c.*113-52_*113-51insGGGGGGGGGGGGGGGC (n.*113-52_*113-51insGGGGGGGGGGGGGGGC) n.974-2589_974-2588insGGGGGGGGGGGGGGGC c.*593-52_*593-51insGGGGGGGGGGGGGGGC (n.*593-52_*593-51insGGGGGGGGGGGGGGGC) n.993-2589_993-2588insGGGGGGGGGGGGGGGC c.919-52_919-51insGGGGGGGGGGGGGGGC (n.919-52_919-51insGGGGGGGGGGGGGGGC) c.325-52_325-51insGGGGGGGGGGGGGGGC (n.325-52_325-51insGGGGGGGGGGGGGGGC) c.319-52_319-51insGGGGGGGGGGGGGGGC (n.319-52_319-51insGGGGGGGGGGGGGGGC) c.-27-52_-27-51insGGGGGGGGGGGGGGGC (n.-27-52_-27-51insGGGGGGGGGGGGGGGC) c.95-52_95-51insGGGGGGGGGGGGGGGC (n.95-52_95-51insGGGGGGGGGGGGGGGC) c.687-8086_687-8085insGGGGGGGGGGGGGGGC (n.687-8086_687-8085insGGGGGGGGGGGGGGGC) c.1297-52_1297-51insGGGGGGGGGGGGGGGC (n.1297-52_1297-51insGGGGGGGGGGGGGGGC) n.2534-52_2534-51insGGGGGGGGGGGGGGGC n.995-2589_995-2588insGGGGGGGGGGGGGGGC | gnomAD v4 |
| 9 | g.133436777dup | CA2692369337 | ADAMTS13 | c.1309-52dup (n.1309-52dup) c.1216-52dup (n.1216-52dup) c.565-52dup (n.565-52dup) c.*113-52dup (n.*113-52dup) n.974-2589dup c.*593-52dup (n.*593-52dup) n.993-2589dup c.919-52dup (n.919-52dup) c.325-52dup (n.325-52dup) c.319-52dup (n.319-52dup) c.-27-52dup (n.-27-52dup) c.95-52dup (n.95-52dup) c.687-8086dup (n.687-8086dup) c.1297-52dup (n.1297-52dup) n.2534-52dup n.995-2589dup | gnomAD v4 |
| 9 | g.133436778_133436780del | CA2692369311 | ADAMTS13 | c.1309-51_1309-49del (n.1309-51_1309-49del) c.1216-51_1216-49del (n.1216-51_1216-49del) c.565-51_565-49del (n.565-51_565-49del) c.*113-51_*113-49del (n.*113-51_*113-49del) n.974-2588_974-2586del c.*593-51_*593-49del (n.*593-51_*593-49del) n.993-2588_993-2586del c.919-51_919-49del (n.919-51_919-49del) c.325-51_325-49del (n.325-51_325-49del) c.319-51_319-49del (n.319-51_319-49del) c.-27-51_-27-49del (n.-27-51_-27-49del) c.95-51_95-49del (n.95-51_95-49del) c.687-8085_687-8083del (n.687-8085_687-8083del) c.1297-51_1297-49del (n.1297-51_1297-49del) n.2534-51_2534-49del n.995-2588_995-2586del | gnomAD v4 |
| 9 | g.133436777_133436781del | CA2692369291 | ADAMTS13 | c.1309-52_1309-48del (n.1309-52_1309-48del) c.1216-52_1216-48del (n.1216-52_1216-48del) c.565-52_565-48del (n.565-52_565-48del) c.*113-52_*113-48del (n.*113-52_*113-48del) n.974-2589_974-2585del c.*593-52_*593-48del (n.*593-52_*593-48del) n.993-2589_993-2585del c.919-52_919-48del (n.919-52_919-48del) c.325-52_325-48del (n.325-52_325-48del) c.319-52_319-48del (n.319-52_319-48del) c.-27-52_-27-48del (n.-27-52_-27-48del) c.95-52_95-48del (n.95-52_95-48del) c.687-8086_687-8082del (n.687-8086_687-8082del) c.1297-52_1297-48del (n.1297-52_1297-48del) n.2534-52_2534-48del n.995-2589_995-2585del | gnomAD v4 |
| 9 | g.133436778_133436781dup | CA2692369407 | ADAMTS13 | c.1309-51_1309-48dup (n.1309-51_1309-48dup) c.1216-51_1216-48dup (n.1216-51_1216-48dup) c.565-51_565-48dup (n.565-51_565-48dup) c.*113-51_*113-48dup (n.*113-51_*113-48dup) n.974-2588_974-2585dup c.*593-51_*593-48dup (n.*593-51_*593-48dup) n.993-2588_993-2585dup c.919-51_919-48dup (n.919-51_919-48dup) c.325-51_325-48dup (n.325-51_325-48dup) c.319-51_319-48dup (n.319-51_319-48dup) c.-27-51_-27-48dup (n.-27-51_-27-48dup) c.95-51_95-48dup (n.95-51_95-48dup) c.687-8085_687-8082dup (n.687-8085_687-8082dup) c.1297-51_1297-48dup (n.1297-51_1297-48dup) n.2534-51_2534-48dup n.995-2588_995-2585dup | gnomAD v4 |
| 9 | g.133436778_133436781del | CA2692369313 | ADAMTS13 | c.1309-51_1309-48del (n.1309-51_1309-48del) c.1216-51_1216-48del (n.1216-51_1216-48del) c.565-51_565-48del (n.565-51_565-48del) c.*113-51_*113-48del (n.*113-51_*113-48del) n.974-2588_974-2585del c.*593-51_*593-48del (n.*593-51_*593-48del) n.993-2588_993-2585del c.919-51_919-48del (n.919-51_919-48del) c.325-51_325-48del (n.325-51_325-48del) c.319-51_319-48del (n.319-51_319-48del) c.-27-51_-27-48del (n.-27-51_-27-48del) c.95-51_95-48del (n.95-51_95-48del) c.687-8085_687-8082del (n.687-8085_687-8082del) c.1297-51_1297-48del (n.1297-51_1297-48del) n.2534-51_2534-48del n.995-2588_995-2585del | gnomAD v4 |
| 9 | g.133436778_133436784del | CA2692369320 | ADAMTS13 | c.1309-51_1309-45del (n.1309-51_1309-45del) c.1216-51_1216-45del (n.1216-51_1216-45del) c.565-51_565-45del (n.565-51_565-45del) c.*113-51_*113-45del (n.*113-51_*113-45del) n.974-2588_974-2582del c.*593-51_*593-45del (n.*593-51_*593-45del) n.993-2588_993-2582del c.919-51_919-45del (n.919-51_919-45del) c.325-51_325-45del (n.325-51_325-45del) c.319-51_319-45del (n.319-51_319-45del) c.-27-51_-27-45del (n.-27-51_-27-45del) c.95-51_95-45del (n.95-51_95-45del) c.687-8085_687-8079del (n.687-8085_687-8079del) c.1297-51_1297-45del (n.1297-51_1297-45del) n.2534-51_2534-45del n.995-2588_995-2582del | gnomAD v4 |
| 9 | g.133436777_133436822del | CA2692369323 | ADAMTS13 | c.1309-52_1309-7del (n.1309-52_1309-7del) c.1216-52_1216-7del (n.1216-52_1216-7del) c.565-52_565-7del (n.565-52_565-7del) c.*113-52_*113-7del (n.*113-52_*113-7del) n.974-2589_974-2544del c.*593-52_*593-7del (n.*593-52_*593-7del) n.993-2589_993-2544del c.919-52_919-7del (n.919-52_919-7del) c.325-52_325-7del (n.325-52_325-7del) c.319-52_319-7del (n.319-52_319-7del) c.-27-52_-27-7del (n.-27-52_-27-7del) c.95-52_95-7del (n.95-52_95-7del) c.687-8086_687-8041del (n.687-8086_687-8041del) c.1297-52_1297-7del (n.1297-52_1297-7del) n.2534-52_2534-7del n.995-2589_995-2544del | gnomAD v4 |
| 9 | g.133436777_133436906del | CA2692369326 | ADAMTS13 | c.1309-52_1386del c.1216-52_1293del c.565-52_642del c.*113-52_*190del n.974-2589_974-2460del c.*593-52_*670del n.993-2589_993-2460del c.919-52_996del c.325-52_402del c.319-52_396del c.-27-52_51del c.95-52_172del c.687-8086_687-7957del (n.687-8086_687-7957del) c.1297-52_1374del n.2534-52_2611del n.995-2589_995-2460del | gnomAD v4 |
| 9 | g.133436777_133436928del | CA2692369329 | ADAMTS13 | c.1309-52_1408del c.1216-52_1315del c.565-52_664del c.*113-52_*212del n.974-2589_974-2438del c.*593-52_*692del n.993-2589_993-2438del c.919-52_1018del c.325-52_424del c.319-52_418del c.-27-52_73del c.95-52_194del c.687-8086_687-7935del (n.687-8086_687-7935del) c.1297-52_1396del n.2534-52_2633del n.995-2589_995-2438del | gnomAD v4 |
| 9 | g.133436777_133436778insG | CA2692369828 | ADAMTS13 | c.1309-52_1309-51insG (n.1309-52_1309-51insG) c.1216-52_1216-51insG (n.1216-52_1216-51insG) c.565-52_565-51insG (n.565-52_565-51insG) c.*113-52_*113-51insG (n.*113-52_*113-51insG) n.974-2589_974-2588insG c.*593-52_*593-51insG (n.*593-52_*593-51insG) n.993-2589_993-2588insG c.919-52_919-51insG (n.919-52_919-51insG) c.325-52_325-51insG (n.325-52_325-51insG) c.319-52_319-51insG (n.319-52_319-51insG) c.-27-52_-27-51insG (n.-27-52_-27-51insG) c.95-52_95-51insG (n.95-52_95-51insG) c.687-8086_687-8085insG (n.687-8086_687-8085insG) c.1297-52_1297-51insG (n.1297-52_1297-51insG) n.2534-52_2534-51insG n.995-2589_995-2588insG | gnomAD v4 |
| 9 | g.133436777_133436778insT | CA2692369797 | ADAMTS13 | c.1309-52_1309-51insT (n.1309-52_1309-51insT) c.1216-52_1216-51insT (n.1216-52_1216-51insT) c.565-52_565-51insT (n.565-52_565-51insT) c.*113-52_*113-51insT (n.*113-52_*113-51insT) n.974-2589_974-2588insT c.*593-52_*593-51insT (n.*593-52_*593-51insT) n.993-2589_993-2588insT c.919-52_919-51insT (n.919-52_919-51insT) c.325-52_325-51insT (n.325-52_325-51insT) c.319-52_319-51insT (n.319-52_319-51insT) c.-27-52_-27-51insT (n.-27-52_-27-51insT) c.95-52_95-51insT (n.95-52_95-51insT) c.687-8086_687-8085insT (n.687-8086_687-8085insT) c.1297-52_1297-51insT (n.1297-52_1297-51insT) n.2534-52_2534-51insT n.995-2589_995-2588insT | gnomAD v4 |
| 9 | g.133436777_133436778insGG | CA2692369826 | ADAMTS13 | c.1309-52_1309-51insGG (n.1309-52_1309-51insGG) c.1216-52_1216-51insGG (n.1216-52_1216-51insGG) c.565-52_565-51insGG (n.565-52_565-51insGG) c.*113-52_*113-51insGG (n.*113-52_*113-51insGG) n.974-2589_974-2588insGG c.*593-52_*593-51insGG (n.*593-52_*593-51insGG) n.993-2589_993-2588insGG c.919-52_919-51insGG (n.919-52_919-51insGG) c.325-52_325-51insGG (n.325-52_325-51insGG) c.319-52_319-51insGG (n.319-52_319-51insGG) c.-27-52_-27-51insGG (n.-27-52_-27-51insGG) c.95-52_95-51insGG (n.95-52_95-51insGG) c.687-8086_687-8085insGG (n.687-8086_687-8085insGG) c.1297-52_1297-51insGG (n.1297-52_1297-51insGG) n.2534-52_2534-51insGG n.995-2589_995-2588insGG | gnomAD v4 |
| 9 | g.133436777_133436778insTG | CA2692369798 | ADAMTS13 | c.1309-52_1309-51insTG (n.1309-52_1309-51insTG) c.1216-52_1216-51insTG (n.1216-52_1216-51insTG) c.565-52_565-51insTG (n.565-52_565-51insTG) c.*113-52_*113-51insTG (n.*113-52_*113-51insTG) n.974-2589_974-2588insTG c.*593-52_*593-51insTG (n.*593-52_*593-51insTG) n.993-2589_993-2588insTG c.919-52_919-51insTG (n.919-52_919-51insTG) c.325-52_325-51insTG (n.325-52_325-51insTG) c.319-52_319-51insTG (n.319-52_319-51insTG) c.-27-52_-27-51insTG (n.-27-52_-27-51insTG) c.95-52_95-51insTG (n.95-52_95-51insTG) c.687-8086_687-8085insTG (n.687-8086_687-8085insTG) c.1297-52_1297-51insTG (n.1297-52_1297-51insTG) n.2534-52_2534-51insTG n.995-2589_995-2588insTG | gnomAD v4 |
| 9 | g.133436777_133436778insGGGG | CA2692369867 | ADAMTS13 | c.1309-52_1309-51insGGGG (n.1309-52_1309-51insGGGG) c.1216-52_1216-51insGGGG (n.1216-52_1216-51insGGGG) c.565-52_565-51insGGGG (n.565-52_565-51insGGGG) c.*113-52_*113-51insGGGG (n.*113-52_*113-51insGGGG) n.974-2589_974-2588insGGGG c.*593-52_*593-51insGGGG (n.*593-52_*593-51insGGGG) n.993-2589_993-2588insGGGG c.919-52_919-51insGGGG (n.919-52_919-51insGGGG) c.325-52_325-51insGGGG (n.325-52_325-51insGGGG) c.319-52_319-51insGGGG (n.319-52_319-51insGGGG) c.-27-52_-27-51insGGGG (n.-27-52_-27-51insGGGG) c.95-52_95-51insGGGG (n.95-52_95-51insGGGG) c.687-8086_687-8085insGGGG (n.687-8086_687-8085insGGGG) c.1297-52_1297-51insGGGG (n.1297-52_1297-51insGGGG) n.2534-52_2534-51insGGGG n.995-2589_995-2588insGGGG | gnomAD v4 |
| 9 | g.133436777_133436778insGGGCG | CA2692369841 | ADAMTS13 | c.1309-52_1309-51insGGGCG (n.1309-52_1309-51insGGGCG) c.1216-52_1216-51insGGGCG (n.1216-52_1216-51insGGGCG) c.565-52_565-51insGGGCG (n.565-52_565-51insGGGCG) c.*113-52_*113-51insGGGCG (n.*113-52_*113-51insGGGCG) n.974-2589_974-2588insGGGCG c.*593-52_*593-51insGGGCG (n.*593-52_*593-51insGGGCG) n.993-2589_993-2588insGGGCG c.919-52_919-51insGGGCG (n.919-52_919-51insGGGCG) c.325-52_325-51insGGGCG (n.325-52_325-51insGGGCG) c.319-52_319-51insGGGCG (n.319-52_319-51insGGGCG) c.-27-52_-27-51insGGGCG (n.-27-52_-27-51insGGGCG) c.95-52_95-51insGGGCG (n.95-52_95-51insGGGCG) c.687-8086_687-8085insGGGCG (n.687-8086_687-8085insGGGCG) c.1297-52_1297-51insGGGCG (n.1297-52_1297-51insGGGCG) n.2534-52_2534-51insGGGCG n.995-2589_995-2588insGGGCG | gnomAD v4 |
| 9 | g.133436777_133436778insGGGGG | CA2692369853 | ADAMTS13 | c.1309-52_1309-51insGGGGG (n.1309-52_1309-51insGGGGG) c.1216-52_1216-51insGGGGG (n.1216-52_1216-51insGGGGG) c.565-52_565-51insGGGGG (n.565-52_565-51insGGGGG) c.*113-52_*113-51insGGGGG (n.*113-52_*113-51insGGGGG) n.974-2589_974-2588insGGGGG c.*593-52_*593-51insGGGGG (n.*593-52_*593-51insGGGGG) n.993-2589_993-2588insGGGGG c.919-52_919-51insGGGGG (n.919-52_919-51insGGGGG) c.325-52_325-51insGGGGG (n.325-52_325-51insGGGGG) c.319-52_319-51insGGGGG (n.319-52_319-51insGGGGG) c.-27-52_-27-51insGGGGG (n.-27-52_-27-51insGGGGG) c.95-52_95-51insGGGGG (n.95-52_95-51insGGGGG) c.687-8086_687-8085insGGGGG (n.687-8086_687-8085insGGGGG) c.1297-52_1297-51insGGGGG (n.1297-52_1297-51insGGGGG) n.2534-52_2534-51insGGGGG n.995-2589_995-2588insGGGGG | gnomAD v4 |
| 9 | g.133436777_133436778insTGGGG | CA2692369807 | ADAMTS13 | c.1309-52_1309-51insTGGGG (n.1309-52_1309-51insTGGGG) c.1216-52_1216-51insTGGGG (n.1216-52_1216-51insTGGGG) c.565-52_565-51insTGGGG (n.565-52_565-51insTGGGG) c.*113-52_*113-51insTGGGG (n.*113-52_*113-51insTGGGG) n.974-2589_974-2588insTGGGG c.*593-52_*593-51insTGGGG (n.*593-52_*593-51insTGGGG) n.993-2589_993-2588insTGGGG c.919-52_919-51insTGGGG (n.919-52_919-51insTGGGG) c.325-52_325-51insTGGGG (n.325-52_325-51insTGGGG) c.319-52_319-51insTGGGG (n.319-52_319-51insTGGGG) c.-27-52_-27-51insTGGGG (n.-27-52_-27-51insTGGGG) c.95-52_95-51insTGGGG (n.95-52_95-51insTGGGG) c.687-8086_687-8085insTGGGG (n.687-8086_687-8085insTGGGG) c.1297-52_1297-51insTGGGG (n.1297-52_1297-51insTGGGG) n.2534-52_2534-51insTGGGG n.995-2589_995-2588insTGGGG | gnomAD v4 |
| 9 | g.133436777_133436778insGGCGGG | CA2692369838 | ADAMTS13 | c.1309-52_1309-51insGGCGGG (n.1309-52_1309-51insGGCGGG) c.1216-52_1216-51insGGCGGG (n.1216-52_1216-51insGGCGGG) c.565-52_565-51insGGCGGG (n.565-52_565-51insGGCGGG) c.*113-52_*113-51insGGCGGG (n.*113-52_*113-51insGGCGGG) n.974-2589_974-2588insGGCGGG c.*593-52_*593-51insGGCGGG (n.*593-52_*593-51insGGCGGG) n.993-2589_993-2588insGGCGGG c.919-52_919-51insGGCGGG (n.919-52_919-51insGGCGGG) c.325-52_325-51insGGCGGG (n.325-52_325-51insGGCGGG) c.319-52_319-51insGGCGGG (n.319-52_319-51insGGCGGG) c.-27-52_-27-51insGGCGGG (n.-27-52_-27-51insGGCGGG) c.95-52_95-51insGGCGGG (n.95-52_95-51insGGCGGG) c.687-8086_687-8085insGGCGGG (n.687-8086_687-8085insGGCGGG) c.1297-52_1297-51insGGCGGG (n.1297-52_1297-51insGGCGGG) n.2534-52_2534-51insGGCGGG n.995-2589_995-2588insGGCGGG | gnomAD v4 |
| 9 | g.133436777_133436778insGGGCGG | CA2692369848 | ADAMTS13 | c.1309-52_1309-51insGGGCGG (n.1309-52_1309-51insGGGCGG) c.1216-52_1216-51insGGGCGG (n.1216-52_1216-51insGGGCGG) c.565-52_565-51insGGGCGG (n.565-52_565-51insGGGCGG) c.*113-52_*113-51insGGGCGG (n.*113-52_*113-51insGGGCGG) n.974-2589_974-2588insGGGCGG c.*593-52_*593-51insGGGCGG (n.*593-52_*593-51insGGGCGG) n.993-2589_993-2588insGGGCGG c.919-52_919-51insGGGCGG (n.919-52_919-51insGGGCGG) c.325-52_325-51insGGGCGG (n.325-52_325-51insGGGCGG) c.319-52_319-51insGGGCGG (n.319-52_319-51insGGGCGG) c.-27-52_-27-51insGGGCGG (n.-27-52_-27-51insGGGCGG) c.95-52_95-51insGGGCGG (n.95-52_95-51insGGGCGG) c.687-8086_687-8085insGGGCGG (n.687-8086_687-8085insGGGCGG) c.1297-52_1297-51insGGGCGG (n.1297-52_1297-51insGGGCGG) n.2534-52_2534-51insGGGCGG n.995-2589_995-2588insGGGCGG | gnomAD v4 |
| 9 | g.133436777_133436778insGGGGGG | CA2692369858 | ADAMTS13 | c.1309-52_1309-51insGGGGGG (n.1309-52_1309-51insGGGGGG) c.1216-52_1216-51insGGGGGG (n.1216-52_1216-51insGGGGGG) c.565-52_565-51insGGGGGG (n.565-52_565-51insGGGGGG) c.*113-52_*113-51insGGGGGG (n.*113-52_*113-51insGGGGGG) n.974-2589_974-2588insGGGGGG c.*593-52_*593-51insGGGGGG (n.*593-52_*593-51insGGGGGG) n.993-2589_993-2588insGGGGGG c.919-52_919-51insGGGGGG (n.919-52_919-51insGGGGGG) c.325-52_325-51insGGGGGG (n.325-52_325-51insGGGGGG) c.319-52_319-51insGGGGGG (n.319-52_319-51insGGGGGG) c.-27-52_-27-51insGGGGGG (n.-27-52_-27-51insGGGGGG) c.95-52_95-51insGGGGGG (n.95-52_95-51insGGGGGG) c.687-8086_687-8085insGGGGGG (n.687-8086_687-8085insGGGGGG) c.1297-52_1297-51insGGGGGG (n.1297-52_1297-51insGGGGGG) n.2534-52_2534-51insGGGGGG n.995-2589_995-2588insGGGGGG | gnomAD v4 |
| 9 | g.133436777_133436778insTGGCGG | CA2692369802 | ADAMTS13 | c.1309-52_1309-51insTGGCGG (n.1309-52_1309-51insTGGCGG) c.1216-52_1216-51insTGGCGG (n.1216-52_1216-51insTGGCGG) c.565-52_565-51insTGGCGG (n.565-52_565-51insTGGCGG) c.*113-52_*113-51insTGGCGG (n.*113-52_*113-51insTGGCGG) n.974-2589_974-2588insTGGCGG c.*593-52_*593-51insTGGCGG (n.*593-52_*593-51insTGGCGG) n.993-2589_993-2588insTGGCGG c.919-52_919-51insTGGCGG (n.919-52_919-51insTGGCGG) c.325-52_325-51insTGGCGG (n.325-52_325-51insTGGCGG) c.319-52_319-51insTGGCGG (n.319-52_319-51insTGGCGG) c.-27-52_-27-51insTGGCGG (n.-27-52_-27-51insTGGCGG) c.95-52_95-51insTGGCGG (n.95-52_95-51insTGGCGG) c.687-8086_687-8085insTGGCGG (n.687-8086_687-8085insTGGCGG) c.1297-52_1297-51insTGGCGG (n.1297-52_1297-51insTGGCGG) n.2534-52_2534-51insTGGCGG n.995-2589_995-2588insTGGCGG | gnomAD v4 |
| 9 | g.133436777_133436778insTGGGGG | CA2692369808 | ADAMTS13 | c.1309-52_1309-51insTGGGGG (n.1309-52_1309-51insTGGGGG) c.1216-52_1216-51insTGGGGG (n.1216-52_1216-51insTGGGGG) c.565-52_565-51insTGGGGG (n.565-52_565-51insTGGGGG) c.*113-52_*113-51insTGGGGG (n.*113-52_*113-51insTGGGGG) n.974-2589_974-2588insTGGGGG c.*593-52_*593-51insTGGGGG (n.*593-52_*593-51insTGGGGG) n.993-2589_993-2588insTGGGGG c.919-52_919-51insTGGGGG (n.919-52_919-51insTGGGGG) c.325-52_325-51insTGGGGG (n.325-52_325-51insTGGGGG) c.319-52_319-51insTGGGGG (n.319-52_319-51insTGGGGG) c.-27-52_-27-51insTGGGGG (n.-27-52_-27-51insTGGGGG) c.95-52_95-51insTGGGGG (n.95-52_95-51insTGGGGG) c.687-8086_687-8085insTGGGGG (n.687-8086_687-8085insTGGGGG) c.1297-52_1297-51insTGGGGG (n.1297-52_1297-51insTGGGGG) n.2534-52_2534-51insTGGGGG n.995-2589_995-2588insTGGGGG | gnomAD v4 |
| 9 | g.133436777_133436778insGGCCGCG | CA2692369835 | ADAMTS13 | c.1309-52_1309-51insGGCCGCG (n.1309-52_1309-51insGGCCGCG) c.1216-52_1216-51insGGCCGCG (n.1216-52_1216-51insGGCCGCG) c.565-52_565-51insGGCCGCG (n.565-52_565-51insGGCCGCG) c.*113-52_*113-51insGGCCGCG (n.*113-52_*113-51insGGCCGCG) n.974-2589_974-2588insGGCCGCG c.*593-52_*593-51insGGCCGCG (n.*593-52_*593-51insGGCCGCG) n.993-2589_993-2588insGGCCGCG c.919-52_919-51insGGCCGCG (n.919-52_919-51insGGCCGCG) c.325-52_325-51insGGCCGCG (n.325-52_325-51insGGCCGCG) c.319-52_319-51insGGCCGCG (n.319-52_319-51insGGCCGCG) c.-27-52_-27-51insGGCCGCG (n.-27-52_-27-51insGGCCGCG) c.95-52_95-51insGGCCGCG (n.95-52_95-51insGGCCGCG) c.687-8086_687-8085insGGCCGCG (n.687-8086_687-8085insGGCCGCG) c.1297-52_1297-51insGGCCGCG (n.1297-52_1297-51insGGCCGCG) n.2534-52_2534-51insGGCCGCG n.995-2589_995-2588insGGCCGCG | gnomAD v4 |
| 9 | g.133436777_133436778insGGGCGCG | CA2692369844 | ADAMTS13 | c.1309-52_1309-51insGGGCGCG (n.1309-52_1309-51insGGGCGCG) c.1216-52_1216-51insGGGCGCG (n.1216-52_1216-51insGGGCGCG) c.565-52_565-51insGGGCGCG (n.565-52_565-51insGGGCGCG) c.*113-52_*113-51insGGGCGCG (n.*113-52_*113-51insGGGCGCG) n.974-2589_974-2588insGGGCGCG c.*593-52_*593-51insGGGCGCG (n.*593-52_*593-51insGGGCGCG) n.993-2589_993-2588insGGGCGCG c.919-52_919-51insGGGCGCG (n.919-52_919-51insGGGCGCG) c.325-52_325-51insGGGCGCG (n.325-52_325-51insGGGCGCG) c.319-52_319-51insGGGCGCG (n.319-52_319-51insGGGCGCG) c.-27-52_-27-51insGGGCGCG (n.-27-52_-27-51insGGGCGCG) c.95-52_95-51insGGGCGCG (n.95-52_95-51insGGGCGCG) c.687-8086_687-8085insGGGCGCG (n.687-8086_687-8085insGGGCGCG) c.1297-52_1297-51insGGGCGCG (n.1297-52_1297-51insGGGCGCG) n.2534-52_2534-51insGGGCGCG n.995-2589_995-2588insGGGCGCG | gnomAD v4 |
| 9 | g.133436777_133436778insGGGCGGG | CA2692369852 | ADAMTS13 | c.1309-52_1309-51insGGGCGGG (n.1309-52_1309-51insGGGCGGG) c.1216-52_1216-51insGGGCGGG (n.1216-52_1216-51insGGGCGGG) c.565-52_565-51insGGGCGGG (n.565-52_565-51insGGGCGGG) c.*113-52_*113-51insGGGCGGG (n.*113-52_*113-51insGGGCGGG) n.974-2589_974-2588insGGGCGGG c.*593-52_*593-51insGGGCGGG (n.*593-52_*593-51insGGGCGGG) n.993-2589_993-2588insGGGCGGG c.919-52_919-51insGGGCGGG (n.919-52_919-51insGGGCGGG) c.325-52_325-51insGGGCGGG (n.325-52_325-51insGGGCGGG) c.319-52_319-51insGGGCGGG (n.319-52_319-51insGGGCGGG) c.-27-52_-27-51insGGGCGGG (n.-27-52_-27-51insGGGCGGG) c.95-52_95-51insGGGCGGG (n.95-52_95-51insGGGCGGG) c.687-8086_687-8085insGGGCGGG (n.687-8086_687-8085insGGGCGGG) c.1297-52_1297-51insGGGCGGG (n.1297-52_1297-51insGGGCGGG) n.2534-52_2534-51insGGGCGGG n.995-2589_995-2588insGGGCGGG | gnomAD v4 |
| 9 | g.133436777_133436778insGGGGGCG | CA2692369855 | ADAMTS13 | c.1309-52_1309-51insGGGGGCG (n.1309-52_1309-51insGGGGGCG) c.1216-52_1216-51insGGGGGCG (n.1216-52_1216-51insGGGGGCG) c.565-52_565-51insGGGGGCG (n.565-52_565-51insGGGGGCG) c.*113-52_*113-51insGGGGGCG (n.*113-52_*113-51insGGGGGCG) n.974-2589_974-2588insGGGGGCG c.*593-52_*593-51insGGGGGCG (n.*593-52_*593-51insGGGGGCG) n.993-2589_993-2588insGGGGGCG c.919-52_919-51insGGGGGCG (n.919-52_919-51insGGGGGCG) c.325-52_325-51insGGGGGCG (n.325-52_325-51insGGGGGCG) c.319-52_319-51insGGGGGCG (n.319-52_319-51insGGGGGCG) c.-27-52_-27-51insGGGGGCG (n.-27-52_-27-51insGGGGGCG) c.95-52_95-51insGGGGGCG (n.95-52_95-51insGGGGGCG) c.687-8086_687-8085insGGGGGCG (n.687-8086_687-8085insGGGGGCG) c.1297-52_1297-51insGGGGGCG (n.1297-52_1297-51insGGGGGCG) n.2534-52_2534-51insGGGGGCG n.995-2589_995-2588insGGGGGCG | gnomAD v4 |
| 9 | g.133436777_133436778insGGGGGGG | CA2692369862 | ADAMTS13 | c.1309-52_1309-51insGGGGGGG (n.1309-52_1309-51insGGGGGGG) c.1216-52_1216-51insGGGGGGG (n.1216-52_1216-51insGGGGGGG) c.565-52_565-51insGGGGGGG (n.565-52_565-51insGGGGGGG) c.*113-52_*113-51insGGGGGGG (n.*113-52_*113-51insGGGGGGG) n.974-2589_974-2588insGGGGGGG c.*593-52_*593-51insGGGGGGG (n.*593-52_*593-51insGGGGGGG) n.993-2589_993-2588insGGGGGGG c.919-52_919-51insGGGGGGG (n.919-52_919-51insGGGGGGG) c.325-52_325-51insGGGGGGG (n.325-52_325-51insGGGGGGG) c.319-52_319-51insGGGGGGG (n.319-52_319-51insGGGGGGG) c.-27-52_-27-51insGGGGGGG (n.-27-52_-27-51insGGGGGGG) c.95-52_95-51insGGGGGGG (n.95-52_95-51insGGGGGGG) c.687-8086_687-8085insGGGGGGG (n.687-8086_687-8085insGGGGGGG) c.1297-52_1297-51insGGGGGGG (n.1297-52_1297-51insGGGGGGG) n.2534-52_2534-51insGGGGGGG n.995-2589_995-2588insGGGGGGG | gnomAD v4 |
| 9 | g.133436777_133436778insTGGCGGG | CA2692369804 | ADAMTS13 | c.1309-52_1309-51insTGGCGGG (n.1309-52_1309-51insTGGCGGG) c.1216-52_1216-51insTGGCGGG (n.1216-52_1216-51insTGGCGGG) c.565-52_565-51insTGGCGGG (n.565-52_565-51insTGGCGGG) c.*113-52_*113-51insTGGCGGG (n.*113-52_*113-51insTGGCGGG) n.974-2589_974-2588insTGGCGGG c.*593-52_*593-51insTGGCGGG (n.*593-52_*593-51insTGGCGGG) n.993-2589_993-2588insTGGCGGG c.919-52_919-51insTGGCGGG (n.919-52_919-51insTGGCGGG) c.325-52_325-51insTGGCGGG (n.325-52_325-51insTGGCGGG) c.319-52_319-51insTGGCGGG (n.319-52_319-51insTGGCGGG) c.-27-52_-27-51insTGGCGGG (n.-27-52_-27-51insTGGCGGG) c.95-52_95-51insTGGCGGG (n.95-52_95-51insTGGCGGG) c.687-8086_687-8085insTGGCGGG (n.687-8086_687-8085insTGGCGGG) c.1297-52_1297-51insTGGCGGG (n.1297-52_1297-51insTGGCGGG) n.2534-52_2534-51insTGGCGGG n.995-2589_995-2588insTGGCGGG | gnomAD v4 |
| 9 | g.133436777_133436778insTGGGGGG | CA2692369811 | ADAMTS13 | c.1309-52_1309-51insTGGGGGG (n.1309-52_1309-51insTGGGGGG) c.1216-52_1216-51insTGGGGGG (n.1216-52_1216-51insTGGGGGG) c.565-52_565-51insTGGGGGG (n.565-52_565-51insTGGGGGG) c.*113-52_*113-51insTGGGGGG (n.*113-52_*113-51insTGGGGGG) n.974-2589_974-2588insTGGGGGG c.*593-52_*593-51insTGGGGGG (n.*593-52_*593-51insTGGGGGG) n.993-2589_993-2588insTGGGGGG c.919-52_919-51insTGGGGGG (n.919-52_919-51insTGGGGGG) c.325-52_325-51insTGGGGGG (n.325-52_325-51insTGGGGGG) c.319-52_319-51insTGGGGGG (n.319-52_319-51insTGGGGGG) c.-27-52_-27-51insTGGGGGG (n.-27-52_-27-51insTGGGGGG) c.95-52_95-51insTGGGGGG (n.95-52_95-51insTGGGGGG) c.687-8086_687-8085insTGGGGGG (n.687-8086_687-8085insTGGGGGG) c.1297-52_1297-51insTGGGGGG (n.1297-52_1297-51insTGGGGGG) n.2534-52_2534-51insTGGGGGG n.995-2589_995-2588insTGGGGGG | gnomAD v4 |
| 9 | g.133436777_133436778insGGGGGGGG | CA2692369863 | ADAMTS13 | c.1309-52_1309-51insGGGGGGGG (n.1309-52_1309-51insGGGGGGGG) c.1216-52_1216-51insGGGGGGGG (n.1216-52_1216-51insGGGGGGGG) c.565-52_565-51insGGGGGGGG (n.565-52_565-51insGGGGGGGG) c.*113-52_*113-51insGGGGGGGG (n.*113-52_*113-51insGGGGGGGG) n.974-2589_974-2588insGGGGGGGG c.*593-52_*593-51insGGGGGGGG (n.*593-52_*593-51insGGGGGGGG) n.993-2589_993-2588insGGGGGGGG c.919-52_919-51insGGGGGGGG (n.919-52_919-51insGGGGGGGG) c.325-52_325-51insGGGGGGGG (n.325-52_325-51insGGGGGGGG) c.319-52_319-51insGGGGGGGG (n.319-52_319-51insGGGGGGGG) c.-27-52_-27-51insGGGGGGGG (n.-27-52_-27-51insGGGGGGGG) c.95-52_95-51insGGGGGGGG (n.95-52_95-51insGGGGGGGG) c.687-8086_687-8085insGGGGGGGG (n.687-8086_687-8085insGGGGGGGG) c.1297-52_1297-51insGGGGGGGG (n.1297-52_1297-51insGGGGGGGG) n.2534-52_2534-51insGGGGGGGG n.995-2589_995-2588insGGGGGGGG | gnomAD v4 |
| 9 | g.133436777_133436778insTGGGGGGG | CA2692369813 | ADAMTS13 | c.1309-52_1309-51insTGGGGGGG (n.1309-52_1309-51insTGGGGGGG) c.1216-52_1216-51insTGGGGGGG (n.1216-52_1216-51insTGGGGGGG) c.565-52_565-51insTGGGGGGG (n.565-52_565-51insTGGGGGGG) c.*113-52_*113-51insTGGGGGGG (n.*113-52_*113-51insTGGGGGGG) n.974-2589_974-2588insTGGGGGGG c.*593-52_*593-51insTGGGGGGG (n.*593-52_*593-51insTGGGGGGG) n.993-2589_993-2588insTGGGGGGG c.919-52_919-51insTGGGGGGG (n.919-52_919-51insTGGGGGGG) c.325-52_325-51insTGGGGGGG (n.325-52_325-51insTGGGGGGG) c.319-52_319-51insTGGGGGGG (n.319-52_319-51insTGGGGGGG) c.-27-52_-27-51insTGGGGGGG (n.-27-52_-27-51insTGGGGGGG) c.95-52_95-51insTGGGGGGG (n.95-52_95-51insTGGGGGGG) c.687-8086_687-8085insTGGGGGGG (n.687-8086_687-8085insTGGGGGGG) c.1297-52_1297-51insTGGGGGGG (n.1297-52_1297-51insTGGGGGGG) n.2534-52_2534-51insTGGGGGGG n.995-2589_995-2588insTGGGGGGG | gnomAD v4 |
| 9 | g.133436777_133436778insGGGGGGGGG | CA2692369866 | ADAMTS13 | c.1309-52_1309-51insGGGGGGGGG (n.1309-52_1309-51insGGGGGGGGG) c.1216-52_1216-51insGGGGGGGGG (n.1216-52_1216-51insGGGGGGGGG) c.565-52_565-51insGGGGGGGGG (n.565-52_565-51insGGGGGGGGG) c.*113-52_*113-51insGGGGGGGGG (n.*113-52_*113-51insGGGGGGGGG) n.974-2589_974-2588insGGGGGGGGG c.*593-52_*593-51insGGGGGGGGG (n.*593-52_*593-51insGGGGGGGGG) n.993-2589_993-2588insGGGGGGGGG c.919-52_919-51insGGGGGGGGG (n.919-52_919-51insGGGGGGGGG) c.325-52_325-51insGGGGGGGGG (n.325-52_325-51insGGGGGGGGG) c.319-52_319-51insGGGGGGGGG (n.319-52_319-51insGGGGGGGGG) c.-27-52_-27-51insGGGGGGGGG (n.-27-52_-27-51insGGGGGGGGG) c.95-52_95-51insGGGGGGGGG (n.95-52_95-51insGGGGGGGGG) c.687-8086_687-8085insGGGGGGGGG (n.687-8086_687-8085insGGGGGGGGG) c.1297-52_1297-51insGGGGGGGGG (n.1297-52_1297-51insGGGGGGGGG) n.2534-52_2534-51insGGGGGGGGG n.995-2589_995-2588insGGGGGGGGG | gnomAD v4 |
| 9 | g.133436777_133436778insTGGGGGGGG | CA2692369815 | ADAMTS13 | c.1309-52_1309-51insTGGGGGGGG (n.1309-52_1309-51insTGGGGGGGG) c.1216-52_1216-51insTGGGGGGGG (n.1216-52_1216-51insTGGGGGGGG) c.565-52_565-51insTGGGGGGGG (n.565-52_565-51insTGGGGGGGG) c.*113-52_*113-51insTGGGGGGGG (n.*113-52_*113-51insTGGGGGGGG) n.974-2589_974-2588insTGGGGGGGG c.*593-52_*593-51insTGGGGGGGG (n.*593-52_*593-51insTGGGGGGGG) n.993-2589_993-2588insTGGGGGGGG c.919-52_919-51insTGGGGGGGG (n.919-52_919-51insTGGGGGGGG) c.325-52_325-51insTGGGGGGGG (n.325-52_325-51insTGGGGGGGG) c.319-52_319-51insTGGGGGGGG (n.319-52_319-51insTGGGGGGGG) c.-27-52_-27-51insTGGGGGGGG (n.-27-52_-27-51insTGGGGGGGG) c.95-52_95-51insTGGGGGGGG (n.95-52_95-51insTGGGGGGGG) c.687-8086_687-8085insTGGGGGGGG (n.687-8086_687-8085insTGGGGGGGG) c.1297-52_1297-51insTGGGGGGGG (n.1297-52_1297-51insTGGGGGGGG) n.2534-52_2534-51insTGGGGGGGG n.995-2589_995-2588insTGGGGGGGG | gnomAD v4 |
| 9 | g.133436777_133436778insGGGGGGGGGG | CA2692369873 | ADAMTS13 | c.1309-52_1309-51insGGGGGGGGGG (n.1309-52_1309-51insGGGGGGGGGG) c.1216-52_1216-51insGGGGGGGGGG (n.1216-52_1216-51insGGGGGGGGGG) c.565-52_565-51insGGGGGGGGGG (n.565-52_565-51insGGGGGGGGGG) c.*113-52_*113-51insGGGGGGGGGG (n.*113-52_*113-51insGGGGGGGGGG) n.974-2589_974-2588insGGGGGGGGGG c.*593-52_*593-51insGGGGGGGGGG (n.*593-52_*593-51insGGGGGGGGGG) n.993-2589_993-2588insGGGGGGGGGG c.919-52_919-51insGGGGGGGGGG (n.919-52_919-51insGGGGGGGGGG) c.325-52_325-51insGGGGGGGGGG (n.325-52_325-51insGGGGGGGGGG) c.319-52_319-51insGGGGGGGGGG (n.319-52_319-51insGGGGGGGGGG) c.-27-52_-27-51insGGGGGGGGGG (n.-27-52_-27-51insGGGGGGGGGG) c.95-52_95-51insGGGGGGGGGG (n.95-52_95-51insGGGGGGGGGG) c.687-8086_687-8085insGGGGGGGGGG (n.687-8086_687-8085insGGGGGGGGGG) c.1297-52_1297-51insGGGGGGGGGG (n.1297-52_1297-51insGGGGGGGGGG) n.2534-52_2534-51insGGGGGGGGGG n.995-2589_995-2588insGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436777_133436778insTGGGGGGGGG | CA2692369817 | ADAMTS13 | c.1309-52_1309-51insTGGGGGGGGG (n.1309-52_1309-51insTGGGGGGGGG) c.1216-52_1216-51insTGGGGGGGGG (n.1216-52_1216-51insTGGGGGGGGG) c.565-52_565-51insTGGGGGGGGG (n.565-52_565-51insTGGGGGGGGG) c.*113-52_*113-51insTGGGGGGGGG (n.*113-52_*113-51insTGGGGGGGGG) n.974-2589_974-2588insTGGGGGGGGG c.*593-52_*593-51insTGGGGGGGGG (n.*593-52_*593-51insTGGGGGGGGG) n.993-2589_993-2588insTGGGGGGGGG c.919-52_919-51insTGGGGGGGGG (n.919-52_919-51insTGGGGGGGGG) c.325-52_325-51insTGGGGGGGGG (n.325-52_325-51insTGGGGGGGGG) c.319-52_319-51insTGGGGGGGGG (n.319-52_319-51insTGGGGGGGGG) c.-27-52_-27-51insTGGGGGGGGG (n.-27-52_-27-51insTGGGGGGGGG) c.95-52_95-51insTGGGGGGGGG (n.95-52_95-51insTGGGGGGGGG) c.687-8086_687-8085insTGGGGGGGGG (n.687-8086_687-8085insTGGGGGGGGG) c.1297-52_1297-51insTGGGGGGGGG (n.1297-52_1297-51insTGGGGGGGGG) n.2534-52_2534-51insTGGGGGGGGG n.995-2589_995-2588insTGGGGGGGGG | gnomAD v4 |
| 9 | g.133436777_133436778insGGGGGGGGGGGG | CA2692369868 | ADAMTS13 | c.1309-52_1309-51insGGGGGGGGGGGG (n.1309-52_1309-51insGGGGGGGGGGGG) c.1216-52_1216-51insGGGGGGGGGGGG (n.1216-52_1216-51insGGGGGGGGGGGG) c.565-52_565-51insGGGGGGGGGGGG (n.565-52_565-51insGGGGGGGGGGGG) c.*113-52_*113-51insGGGGGGGGGGGG (n.*113-52_*113-51insGGGGGGGGGGGG) n.974-2589_974-2588insGGGGGGGGGGGG c.*593-52_*593-51insGGGGGGGGGGGG (n.*593-52_*593-51insGGGGGGGGGGGG) n.993-2589_993-2588insGGGGGGGGGGGG c.919-52_919-51insGGGGGGGGGGGG (n.919-52_919-51insGGGGGGGGGGGG) c.325-52_325-51insGGGGGGGGGGGG (n.325-52_325-51insGGGGGGGGGGGG) c.319-52_319-51insGGGGGGGGGGGG (n.319-52_319-51insGGGGGGGGGGGG) c.-27-52_-27-51insGGGGGGGGGGGG (n.-27-52_-27-51insGGGGGGGGGGGG) c.95-52_95-51insGGGGGGGGGGGG (n.95-52_95-51insGGGGGGGGGGGG) c.687-8086_687-8085insGGGGGGGGGGGG (n.687-8086_687-8085insGGGGGGGGGGGG) c.1297-52_1297-51insGGGGGGGGGGGG (n.1297-52_1297-51insGGGGGGGGGGGG) n.2534-52_2534-51insGGGGGGGGGGGG n.995-2589_995-2588insGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436777_133436778insGGGGGGGGGGGGG | CA2692369825 | ADAMTS13 | c.1309-52_1309-51insGGGGGGGGGGGGG (n.1309-52_1309-51insGGGGGGGGGGGGG) c.1216-52_1216-51insGGGGGGGGGGGGG (n.1216-52_1216-51insGGGGGGGGGGGGG) c.565-52_565-51insGGGGGGGGGGGGG (n.565-52_565-51insGGGGGGGGGGGGG) c.*113-52_*113-51insGGGGGGGGGGGGG (n.*113-52_*113-51insGGGGGGGGGGGGG) n.974-2589_974-2588insGGGGGGGGGGGGG c.*593-52_*593-51insGGGGGGGGGGGGG (n.*593-52_*593-51insGGGGGGGGGGGGG) n.993-2589_993-2588insGGGGGGGGGGGGG c.919-52_919-51insGGGGGGGGGGGGG (n.919-52_919-51insGGGGGGGGGGGGG) c.325-52_325-51insGGGGGGGGGGGGG (n.325-52_325-51insGGGGGGGGGGGGG) c.319-52_319-51insGGGGGGGGGGGGG (n.319-52_319-51insGGGGGGGGGGGGG) c.-27-52_-27-51insGGGGGGGGGGGGG (n.-27-52_-27-51insGGGGGGGGGGGGG) c.95-52_95-51insGGGGGGGGGGGGG (n.95-52_95-51insGGGGGGGGGGGGG) c.687-8086_687-8085insGGGGGGGGGGGGG (n.687-8086_687-8085insGGGGGGGGGGGGG) c.1297-52_1297-51insGGGGGGGGGGGGG (n.1297-52_1297-51insGGGGGGGGGGGGG) n.2534-52_2534-51insGGGGGGGGGGGGG n.995-2589_995-2588insGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436777_133436778insGGGGGGGGGGCGGG | CA2692369869 | ADAMTS13 | c.1309-52_1309-51insGGGGGGGGGGCGGG (n.1309-52_1309-51insGGGGGGGGGGCGGG) c.1216-52_1216-51insGGGGGGGGGGCGGG (n.1216-52_1216-51insGGGGGGGGGGCGGG) c.565-52_565-51insGGGGGGGGGGCGGG (n.565-52_565-51insGGGGGGGGGGCGGG) c.*113-52_*113-51insGGGGGGGGGGCGGG (n.*113-52_*113-51insGGGGGGGGGGCGGG) n.974-2589_974-2588insGGGGGGGGGGCGGG c.*593-52_*593-51insGGGGGGGGGGCGGG (n.*593-52_*593-51insGGGGGGGGGGCGGG) n.993-2589_993-2588insGGGGGGGGGGCGGG c.919-52_919-51insGGGGGGGGGGCGGG (n.919-52_919-51insGGGGGGGGGGCGGG) c.325-52_325-51insGGGGGGGGGGCGGG (n.325-52_325-51insGGGGGGGGGGCGGG) c.319-52_319-51insGGGGGGGGGGCGGG (n.319-52_319-51insGGGGGGGGGGCGGG) c.-27-52_-27-51insGGGGGGGGGGCGGG (n.-27-52_-27-51insGGGGGGGGGGCGGG) c.95-52_95-51insGGGGGGGGGGCGGG (n.95-52_95-51insGGGGGGGGGGCGGG) c.687-8086_687-8085insGGGGGGGGGGCGGG (n.687-8086_687-8085insGGGGGGGGGGCGGG) c.1297-52_1297-51insGGGGGGGGGGCGGG (n.1297-52_1297-51insGGGGGGGGGGCGGG) n.2534-52_2534-51insGGGGGGGGGGCGGG n.995-2589_995-2588insGGGGGGGGGGCGGG | gnomAD v4 |
| 9 | g.133436777_133436778insGGGGGGGGGGGGGG | CA2692369833 | ADAMTS13 | c.1309-52_1309-51insGGGGGGGGGGGGGG (n.1309-52_1309-51insGGGGGGGGGGGGGG) c.1216-52_1216-51insGGGGGGGGGGGGGG (n.1216-52_1216-51insGGGGGGGGGGGGGG) c.565-52_565-51insGGGGGGGGGGGGGG (n.565-52_565-51insGGGGGGGGGGGGGG) c.*113-52_*113-51insGGGGGGGGGGGGGG (n.*113-52_*113-51insGGGGGGGGGGGGGG) n.974-2589_974-2588insGGGGGGGGGGGGGG c.*593-52_*593-51insGGGGGGGGGGGGGG (n.*593-52_*593-51insGGGGGGGGGGGGGG) n.993-2589_993-2588insGGGGGGGGGGGGGG c.919-52_919-51insGGGGGGGGGGGGGG (n.919-52_919-51insGGGGGGGGGGGGGG) c.325-52_325-51insGGGGGGGGGGGGGG (n.325-52_325-51insGGGGGGGGGGGGGG) c.319-52_319-51insGGGGGGGGGGGGGG (n.319-52_319-51insGGGGGGGGGGGGGG) c.-27-52_-27-51insGGGGGGGGGGGGGG (n.-27-52_-27-51insGGGGGGGGGGGGGG) c.95-52_95-51insGGGGGGGGGGGGGG (n.95-52_95-51insGGGGGGGGGGGGGG) c.687-8086_687-8085insGGGGGGGGGGGGGG (n.687-8086_687-8085insGGGGGGGGGGGGGG) c.1297-52_1297-51insGGGGGGGGGGGGGG (n.1297-52_1297-51insGGGGGGGGGGGGGG) n.2534-52_2534-51insGGGGGGGGGGGGGG n.995-2589_995-2588insGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436777_133436778insGGGGGGGGGGGGGGG | CA2692369800 | ADAMTS13 | c.1309-52_1309-51insGGGGGGGGGGGGGGG (n.1309-52_1309-51insGGGGGGGGGGGGGGG) c.1216-52_1216-51insGGGGGGGGGGGGGGG (n.1216-52_1216-51insGGGGGGGGGGGGGGG) c.565-52_565-51insGGGGGGGGGGGGGGG (n.565-52_565-51insGGGGGGGGGGGGGGG) c.*113-52_*113-51insGGGGGGGGGGGGGGG (n.*113-52_*113-51insGGGGGGGGGGGGGGG) n.974-2589_974-2588insGGGGGGGGGGGGGGG c.*593-52_*593-51insGGGGGGGGGGGGGGG (n.*593-52_*593-51insGGGGGGGGGGGGGGG) n.993-2589_993-2588insGGGGGGGGGGGGGGG c.919-52_919-51insGGGGGGGGGGGGGGG (n.919-52_919-51insGGGGGGGGGGGGGGG) c.325-52_325-51insGGGGGGGGGGGGGGG (n.325-52_325-51insGGGGGGGGGGGGGGG) c.319-52_319-51insGGGGGGGGGGGGGGG (n.319-52_319-51insGGGGGGGGGGGGGGG) c.-27-52_-27-51insGGGGGGGGGGGGGGG (n.-27-52_-27-51insGGGGGGGGGGGGGGG) c.95-52_95-51insGGGGGGGGGGGGGGG (n.95-52_95-51insGGGGGGGGGGGGGGG) c.687-8086_687-8085insGGGGGGGGGGGGGGG (n.687-8086_687-8085insGGGGGGGGGGGGGGG) c.1297-52_1297-51insGGGGGGGGGGGGGGG (n.1297-52_1297-51insGGGGGGGGGGGGGGG) n.2534-52_2534-51insGGGGGGGGGGGGGGG n.995-2589_995-2588insGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436777_133436778insGGGGGGGGGGGGGGGG | CA2692369791 | ADAMTS13 | c.1309-52_1309-51insGGGGGGGGGGGGGGGG (n.1309-52_1309-51insGGGGGGGGGGGGGGGG) c.1216-52_1216-51insGGGGGGGGGGGGGGGG (n.1216-52_1216-51insGGGGGGGGGGGGGGGG) c.565-52_565-51insGGGGGGGGGGGGGGGG (n.565-52_565-51insGGGGGGGGGGGGGGGG) c.*113-52_*113-51insGGGGGGGGGGGGGGGG (n.*113-52_*113-51insGGGGGGGGGGGGGGGG) n.974-2589_974-2588insGGGGGGGGGGGGGGGG c.*593-52_*593-51insGGGGGGGGGGGGGGGG (n.*593-52_*593-51insGGGGGGGGGGGGGGGG) n.993-2589_993-2588insGGGGGGGGGGGGGGGG c.919-52_919-51insGGGGGGGGGGGGGGGG (n.919-52_919-51insGGGGGGGGGGGGGGGG) c.325-52_325-51insGGGGGGGGGGGGGGGG (n.325-52_325-51insGGGGGGGGGGGGGGGG) c.319-52_319-51insGGGGGGGGGGGGGGGG (n.319-52_319-51insGGGGGGGGGGGGGGGG) c.-27-52_-27-51insGGGGGGGGGGGGGGGG (n.-27-52_-27-51insGGGGGGGGGGGGGGGG) c.95-52_95-51insGGGGGGGGGGGGGGGG (n.95-52_95-51insGGGGGGGGGGGGGGGG) c.687-8086_687-8085insGGGGGGGGGGGGGGGG (n.687-8086_687-8085insGGGGGGGGGGGGGGGG) c.1297-52_1297-51insGGGGGGGGGGGGGGGG (n.1297-52_1297-51insGGGGGGGGGGGGGGGG) n.2534-52_2534-51insGGGGGGGGGGGGGGGG n.995-2589_995-2588insGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436777_133436778insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2692369796 | ADAMTS13 | c.1309-52_1309-51insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1309-52_1309-51insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1216-52_1216-51insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1216-52_1216-51insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.565-52_565-51insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.565-52_565-51insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*113-52_*113-51insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*113-52_*113-51insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.974-2589_974-2588insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*593-52_*593-51insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*593-52_*593-51insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.993-2589_993-2588insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.919-52_919-51insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.919-52_919-51insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.325-52_325-51insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.325-52_325-51insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.319-52_319-51insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.319-52_319-51insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-27-52_-27-51insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-27-52_-27-51insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.95-52_95-51insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.95-52_95-51insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.687-8086_687-8085insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.687-8086_687-8085insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1297-52_1297-51insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1297-52_1297-51insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.2534-52_2534-51insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.995-2589_995-2588insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436778del | CA2692369820 | ADAMTS13 | c.1309-51del (n.1309-51del) c.1216-51del (n.1216-51del) c.565-51del (n.565-51del) c.*113-51del (n.*113-51del) n.974-2588del c.*593-51del (n.*593-51del) n.993-2588del c.919-51del (n.919-51del) c.325-51del (n.325-51del) c.319-51del (n.319-51del) c.-27-51del (n.-27-51del) c.95-51del (n.95-51del) c.687-8085del (n.687-8085del) c.1297-51del (n.1297-51del) n.2534-51del n.995-2588del | gnomAD v4 |
| 9 | g.133436778A= | CA1882673065 | ADAMTS13 | c.1309-51A= (n.1309-51A=) c.1216-51A= (n.1216-51A=) c.565-51A= (n.565-51A=) c.*113-51A= (n.*113-51A=) n.974-2588A= c.*593-51A= (n.*593-51A=) n.993-2588A= c.919-51A= (n.919-51A=) c.325-51A= (n.325-51A=) c.319-51A= (n.319-51A=) c.-27-51A= (n.-27-51A=) c.95-51A= (n.95-51A=) c.687-8085A= (n.687-8085A=) c.1297-51A= (n.1297-51A=) n.2534-51A= n.995-2588A= | |
| 9 | g.133436778A>C | CA200929451 | ADAMTS13 | c.1309-51A>C (n.1309-51A>C) c.1216-51A>C (n.1216-51A>C) c.565-51A>C (n.565-51A>C) c.*113-51A>C (n.*113-51A>C) n.974-2588A>C c.*593-51A>C (n.*593-51A>C) n.993-2588A>C c.919-51A>C (n.919-51A>C) c.325-51A>C (n.325-51A>C) c.319-51A>C (n.319-51A>C) c.-27-51A>C (n.-27-51A>C) c.95-51A>C (n.95-51A>C) c.687-8085A>C (n.687-8085A>C) c.1297-51A>C (n.1297-51A>C) n.2534-51A>C n.995-2588A>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436778A>G | CA860755343 | ADAMTS13 | c.1309-51A>G (n.1309-51A>G) c.1216-51A>G (n.1216-51A>G) c.565-51A>G (n.565-51A>G) c.*113-51A>G (n.*113-51A>G) n.974-2588A>G c.*593-51A>G (n.*593-51A>G) n.993-2588A>G c.919-51A>G (n.919-51A>G) c.325-51A>G (n.325-51A>G) c.319-51A>G (n.319-51A>G) c.-27-51A>G (n.-27-51A>G) c.95-51A>G (n.95-51A>G) c.687-8085A>G (n.687-8085A>G) c.1297-51A>G (n.1297-51A>G) n.2534-51A>G n.995-2588A>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436778A>T | CA2692369824 | ADAMTS13 | c.1309-51A>T (n.1309-51A>T) c.1216-51A>T (n.1216-51A>T) c.565-51A>T (n.565-51A>T) c.*113-51A>T (n.*113-51A>T) n.974-2588A>T c.*593-51A>T (n.*593-51A>T) n.993-2588A>T c.919-51A>T (n.919-51A>T) c.325-51A>T (n.325-51A>T) c.319-51A>T (n.319-51A>T) c.-27-51A>T (n.-27-51A>T) c.95-51A>T (n.95-51A>T) c.687-8085A>T (n.687-8085A>T) c.1297-51A>T (n.1297-51A>T) n.2534-51A>T n.995-2588A>T | gnomAD v4 |
| 9 | g.133436778dup | CA2579500359 | ADAMTS13 | c.1309-51dup (n.1309-51dup) c.1216-51dup (n.1216-51dup) c.565-51dup (n.565-51dup) c.*113-51dup (n.*113-51dup) n.974-2588dup c.*593-51dup (n.*593-51dup) n.993-2588dup c.919-51dup (n.919-51dup) c.325-51dup (n.325-51dup) c.319-51dup (n.319-51dup) c.-27-51dup (n.-27-51dup) c.95-51dup (n.95-51dup) c.687-8085dup (n.687-8085dup) c.1297-51dup (n.1297-51dup) n.2534-51dup n.995-2588dup | gnomAD v4 |
| 9 | g.133436778_133436782del | CA2692369821 | ADAMTS13 | c.1309-51_1309-47del (n.1309-51_1309-47del) c.1216-51_1216-47del (n.1216-51_1216-47del) c.565-51_565-47del (n.565-51_565-47del) c.*113-51_*113-47del (n.*113-51_*113-47del) n.974-2588_974-2584del c.*593-51_*593-47del (n.*593-51_*593-47del) n.993-2588_993-2584del c.919-51_919-47del (n.919-51_919-47del) c.325-51_325-47del (n.325-51_325-47del) c.319-51_319-47del (n.319-51_319-47del) c.-27-51_-27-47del (n.-27-51_-27-47del) c.95-51_95-47del (n.95-51_95-47del) c.687-8085_687-8081del (n.687-8085_687-8081del) c.1297-51_1297-47del (n.1297-51_1297-47del) n.2534-51_2534-47del n.995-2588_995-2584del | gnomAD v4 |
| 9 | g.133436778_133436779insG | CA2692370253 | ADAMTS13 | c.1309-51_1309-50insG (n.1309-51_1309-50insG) c.1216-51_1216-50insG (n.1216-51_1216-50insG) c.565-51_565-50insG (n.565-51_565-50insG) c.*113-51_*113-50insG (n.*113-51_*113-50insG) n.974-2588_974-2587insG c.*593-51_*593-50insG (n.*593-51_*593-50insG) n.993-2588_993-2587insG c.919-51_919-50insG (n.919-51_919-50insG) c.325-51_325-50insG (n.325-51_325-50insG) c.319-51_319-50insG (n.319-51_319-50insG) c.-27-51_-27-50insG (n.-27-51_-27-50insG) c.95-51_95-50insG (n.95-51_95-50insG) c.687-8085_687-8084insG (n.687-8085_687-8084insG) c.1297-51_1297-50insG (n.1297-51_1297-50insG) n.2534-51_2534-50insG n.995-2588_995-2587insG | gnomAD v4 |
| 9 | g.133436778_133436779insT | CA2692370106 | ADAMTS13 | c.1309-51_1309-50insT (n.1309-51_1309-50insT) c.1216-51_1216-50insT (n.1216-51_1216-50insT) c.565-51_565-50insT (n.565-51_565-50insT) c.*113-51_*113-50insT (n.*113-51_*113-50insT) n.974-2588_974-2587insT c.*593-51_*593-50insT (n.*593-51_*593-50insT) n.993-2588_993-2587insT c.919-51_919-50insT (n.919-51_919-50insT) c.325-51_325-50insT (n.325-51_325-50insT) c.319-51_319-50insT (n.319-51_319-50insT) c.-27-51_-27-50insT (n.-27-51_-27-50insT) c.95-51_95-50insT (n.95-51_95-50insT) c.687-8085_687-8084insT (n.687-8085_687-8084insT) c.1297-51_1297-50insT (n.1297-51_1297-50insT) n.2534-51_2534-50insT n.995-2588_995-2587insT | gnomAD v4 |
| 9 | g.133436778_133436779insAC | CA2579500365 | ADAMTS13 | c.1309-51_1309-50insAC (n.1309-51_1309-50insAC) c.1216-51_1216-50insAC (n.1216-51_1216-50insAC) c.565-51_565-50insAC (n.565-51_565-50insAC) c.*113-51_*113-50insAC (n.*113-51_*113-50insAC) n.974-2588_974-2587insAC c.*593-51_*593-50insAC (n.*593-51_*593-50insAC) n.993-2588_993-2587insAC c.919-51_919-50insAC (n.919-51_919-50insAC) c.325-51_325-50insAC (n.325-51_325-50insAC) c.319-51_319-50insAC (n.319-51_319-50insAC) c.-27-51_-27-50insAC (n.-27-51_-27-50insAC) c.95-51_95-50insAC (n.95-51_95-50insAC) c.687-8085_687-8084insAC (n.687-8085_687-8084insAC) c.1297-51_1297-50insAC (n.1297-51_1297-50insAC) n.2534-51_2534-50insAC n.995-2588_995-2587insAC | gnomAD v4 |
| 9 | g.133436778_133436779insGC | CA2692370068 | ADAMTS13 | c.1309-51_1309-50insGC (n.1309-51_1309-50insGC) c.1216-51_1216-50insGC (n.1216-51_1216-50insGC) c.565-51_565-50insGC (n.565-51_565-50insGC) c.*113-51_*113-50insGC (n.*113-51_*113-50insGC) n.974-2588_974-2587insGC c.*593-51_*593-50insGC (n.*593-51_*593-50insGC) n.993-2588_993-2587insGC c.919-51_919-50insGC (n.919-51_919-50insGC) c.325-51_325-50insGC (n.325-51_325-50insGC) c.319-51_319-50insGC (n.319-51_319-50insGC) c.-27-51_-27-50insGC (n.-27-51_-27-50insGC) c.95-51_95-50insGC (n.95-51_95-50insGC) c.687-8085_687-8084insGC (n.687-8085_687-8084insGC) c.1297-51_1297-50insGC (n.1297-51_1297-50insGC) n.2534-51_2534-50insGC n.995-2588_995-2587insGC | gnomAD v4 |
| 9 | g.133436778_133436779insGG | CA2692370071 | ADAMTS13 | c.1309-51_1309-50insGG (n.1309-51_1309-50insGG) c.1216-51_1216-50insGG (n.1216-51_1216-50insGG) c.565-51_565-50insGG (n.565-51_565-50insGG) c.*113-51_*113-50insGG (n.*113-51_*113-50insGG) n.974-2588_974-2587insGG c.*593-51_*593-50insGG (n.*593-51_*593-50insGG) n.993-2588_993-2587insGG c.919-51_919-50insGG (n.919-51_919-50insGG) c.325-51_325-50insGG (n.325-51_325-50insGG) c.319-51_319-50insGG (n.319-51_319-50insGG) c.-27-51_-27-50insGG (n.-27-51_-27-50insGG) c.95-51_95-50insGG (n.95-51_95-50insGG) c.687-8085_687-8084insGG (n.687-8085_687-8084insGG) c.1297-51_1297-50insGG (n.1297-51_1297-50insGG) n.2534-51_2534-50insGG n.995-2588_995-2587insGG | gnomAD v4 |
| 9 | g.133436778_133436779insACC | CA2692370240 | ADAMTS13 | c.1309-51_1309-50insACC (n.1309-51_1309-50insACC) c.1216-51_1216-50insACC (n.1216-51_1216-50insACC) c.565-51_565-50insACC (n.565-51_565-50insACC) c.*113-51_*113-50insACC (n.*113-51_*113-50insACC) n.974-2588_974-2587insACC c.*593-51_*593-50insACC (n.*593-51_*593-50insACC) n.993-2588_993-2587insACC c.919-51_919-50insACC (n.919-51_919-50insACC) c.325-51_325-50insACC (n.325-51_325-50insACC) c.319-51_319-50insACC (n.319-51_319-50insACC) c.-27-51_-27-50insACC (n.-27-51_-27-50insACC) c.95-51_95-50insACC (n.95-51_95-50insACC) c.687-8085_687-8084insACC (n.687-8085_687-8084insACC) c.1297-51_1297-50insACC (n.1297-51_1297-50insACC) n.2534-51_2534-50insACC n.995-2588_995-2587insACC | gnomAD v4 |
| 9 | g.133436778_133436779insGGC | CA2692370070 | ADAMTS13 | c.1309-51_1309-50insGGC (n.1309-51_1309-50insGGC) c.1216-51_1216-50insGGC (n.1216-51_1216-50insGGC) c.565-51_565-50insGGC (n.565-51_565-50insGGC) c.*113-51_*113-50insGGC (n.*113-51_*113-50insGGC) n.974-2588_974-2587insGGC c.*593-51_*593-50insGGC (n.*593-51_*593-50insGGC) n.993-2588_993-2587insGGC c.919-51_919-50insGGC (n.919-51_919-50insGGC) c.325-51_325-50insGGC (n.325-51_325-50insGGC) c.319-51_319-50insGGC (n.319-51_319-50insGGC) c.-27-51_-27-50insGGC (n.-27-51_-27-50insGGC) c.95-51_95-50insGGC (n.95-51_95-50insGGC) c.687-8085_687-8084insGGC (n.687-8085_687-8084insGGC) c.1297-51_1297-50insGGC (n.1297-51_1297-50insGGC) n.2534-51_2534-50insGGC n.995-2588_995-2587insGGC | gnomAD v4 |
| 9 | g.133436778_133436779insGGG | CA2692370111 | ADAMTS13 | c.1309-51_1309-50insGGG (n.1309-51_1309-50insGGG) c.1216-51_1216-50insGGG (n.1216-51_1216-50insGGG) c.565-51_565-50insGGG (n.565-51_565-50insGGG) c.*113-51_*113-50insGGG (n.*113-51_*113-50insGGG) n.974-2588_974-2587insGGG c.*593-51_*593-50insGGG (n.*593-51_*593-50insGGG) n.993-2588_993-2587insGGG c.919-51_919-50insGGG (n.919-51_919-50insGGG) c.325-51_325-50insGGG (n.325-51_325-50insGGG) c.319-51_319-50insGGG (n.319-51_319-50insGGG) c.-27-51_-27-50insGGG (n.-27-51_-27-50insGGG) c.95-51_95-50insGGG (n.95-51_95-50insGGG) c.687-8085_687-8084insGGG (n.687-8085_687-8084insGGG) c.1297-51_1297-50insGGG (n.1297-51_1297-50insGGG) n.2534-51_2534-50insGGG n.995-2588_995-2587insGGG | gnomAD v4 |
| 9 | g.133436778_133436779insGGCC | CA2692370051 | ADAMTS13 | c.1309-51_1309-50insGGCC (n.1309-51_1309-50insGGCC) c.1216-51_1216-50insGGCC (n.1216-51_1216-50insGGCC) c.565-51_565-50insGGCC (n.565-51_565-50insGGCC) c.*113-51_*113-50insGGCC (n.*113-51_*113-50insGGCC) n.974-2588_974-2587insGGCC c.*593-51_*593-50insGGCC (n.*593-51_*593-50insGGCC) n.993-2588_993-2587insGGCC c.919-51_919-50insGGCC (n.919-51_919-50insGGCC) c.325-51_325-50insGGCC (n.325-51_325-50insGGCC) c.319-51_319-50insGGCC (n.319-51_319-50insGGCC) c.-27-51_-27-50insGGCC (n.-27-51_-27-50insGGCC) c.95-51_95-50insGGCC (n.95-51_95-50insGGCC) c.687-8085_687-8084insGGCC (n.687-8085_687-8084insGGCC) c.1297-51_1297-50insGGCC (n.1297-51_1297-50insGGCC) n.2534-51_2534-50insGGCC n.995-2588_995-2587insGGCC | gnomAD v4 |
| 9 | g.133436778_133436779insGGGG | CA2692370133 | ADAMTS13 | c.1309-51_1309-50insGGGG (n.1309-51_1309-50insGGGG) c.1216-51_1216-50insGGGG (n.1216-51_1216-50insGGGG) c.565-51_565-50insGGGG (n.565-51_565-50insGGGG) c.*113-51_*113-50insGGGG (n.*113-51_*113-50insGGGG) n.974-2588_974-2587insGGGG c.*593-51_*593-50insGGGG (n.*593-51_*593-50insGGGG) n.993-2588_993-2587insGGGG c.919-51_919-50insGGGG (n.919-51_919-50insGGGG) c.325-51_325-50insGGGG (n.325-51_325-50insGGGG) c.319-51_319-50insGGGG (n.319-51_319-50insGGGG) c.-27-51_-27-50insGGGG (n.-27-51_-27-50insGGGG) c.95-51_95-50insGGGG (n.95-51_95-50insGGGG) c.687-8085_687-8084insGGGG (n.687-8085_687-8084insGGGG) c.1297-51_1297-50insGGGG (n.1297-51_1297-50insGGGG) n.2534-51_2534-50insGGGG n.995-2588_995-2587insGGGG | gnomAD v4 |
| 9 | g.133436778_133436779insGCCGG | CA2692370078 | ADAMTS13 | c.1309-51_1309-50insGCCGG (n.1309-51_1309-50insGCCGG) c.1216-51_1216-50insGCCGG (n.1216-51_1216-50insGCCGG) c.565-51_565-50insGCCGG (n.565-51_565-50insGCCGG) c.*113-51_*113-50insGCCGG (n.*113-51_*113-50insGCCGG) n.974-2588_974-2587insGCCGG c.*593-51_*593-50insGCCGG (n.*593-51_*593-50insGCCGG) n.993-2588_993-2587insGCCGG c.919-51_919-50insGCCGG (n.919-51_919-50insGCCGG) c.325-51_325-50insGCCGG (n.325-51_325-50insGCCGG) c.319-51_319-50insGCCGG (n.319-51_319-50insGCCGG) c.-27-51_-27-50insGCCGG (n.-27-51_-27-50insGCCGG) c.95-51_95-50insGCCGG (n.95-51_95-50insGCCGG) c.687-8085_687-8084insGCCGG (n.687-8085_687-8084insGCCGG) c.1297-51_1297-50insGCCGG (n.1297-51_1297-50insGCCGG) n.2534-51_2534-50insGCCGG n.995-2588_995-2587insGCCGG | gnomAD v4 |
| 9 | g.133436778_133436779insGGCGG | CA2692370057 | ADAMTS13 | c.1309-51_1309-50insGGCGG (n.1309-51_1309-50insGGCGG) c.1216-51_1216-50insGGCGG (n.1216-51_1216-50insGGCGG) c.565-51_565-50insGGCGG (n.565-51_565-50insGGCGG) c.*113-51_*113-50insGGCGG (n.*113-51_*113-50insGGCGG) n.974-2588_974-2587insGGCGG c.*593-51_*593-50insGGCGG (n.*593-51_*593-50insGGCGG) n.993-2588_993-2587insGGCGG c.919-51_919-50insGGCGG (n.919-51_919-50insGGCGG) c.325-51_325-50insGGCGG (n.325-51_325-50insGGCGG) c.319-51_319-50insGGCGG (n.319-51_319-50insGGCGG) c.-27-51_-27-50insGGCGG (n.-27-51_-27-50insGGCGG) c.95-51_95-50insGGCGG (n.95-51_95-50insGGCGG) c.687-8085_687-8084insGGCGG (n.687-8085_687-8084insGGCGG) c.1297-51_1297-50insGGCGG (n.1297-51_1297-50insGGCGG) n.2534-51_2534-50insGGCGG n.995-2588_995-2587insGGCGG | gnomAD v4 |
| 9 | g.133436778_133436779insGGGGG | CA2692370127 | ADAMTS13 | c.1309-51_1309-50insGGGGG (n.1309-51_1309-50insGGGGG) c.1216-51_1216-50insGGGGG (n.1216-51_1216-50insGGGGG) c.565-51_565-50insGGGGG (n.565-51_565-50insGGGGG) c.*113-51_*113-50insGGGGG (n.*113-51_*113-50insGGGGG) n.974-2588_974-2587insGGGGG c.*593-51_*593-50insGGGGG (n.*593-51_*593-50insGGGGG) n.993-2588_993-2587insGGGGG c.919-51_919-50insGGGGG (n.919-51_919-50insGGGGG) c.325-51_325-50insGGGGG (n.325-51_325-50insGGGGG) c.319-51_319-50insGGGGG (n.319-51_319-50insGGGGG) c.-27-51_-27-50insGGGGG (n.-27-51_-27-50insGGGGG) c.95-51_95-50insGGGGG (n.95-51_95-50insGGGGG) c.687-8085_687-8084insGGGGG (n.687-8085_687-8084insGGGGG) c.1297-51_1297-50insGGGGG (n.1297-51_1297-50insGGGGG) n.2534-51_2534-50insGGGGG n.995-2588_995-2587insGGGGG | gnomAD v4 |
| 9 | g.133436778_133436779insGGCGGG | CA2692370064 | ADAMTS13 | c.1309-51_1309-50insGGCGGG (n.1309-51_1309-50insGGCGGG) c.1216-51_1216-50insGGCGGG (n.1216-51_1216-50insGGCGGG) c.565-51_565-50insGGCGGG (n.565-51_565-50insGGCGGG) c.*113-51_*113-50insGGCGGG (n.*113-51_*113-50insGGCGGG) n.974-2588_974-2587insGGCGGG c.*593-51_*593-50insGGCGGG (n.*593-51_*593-50insGGCGGG) n.993-2588_993-2587insGGCGGG c.919-51_919-50insGGCGGG (n.919-51_919-50insGGCGGG) c.325-51_325-50insGGCGGG (n.325-51_325-50insGGCGGG) c.319-51_319-50insGGCGGG (n.319-51_319-50insGGCGGG) c.-27-51_-27-50insGGCGGG (n.-27-51_-27-50insGGCGGG) c.95-51_95-50insGGCGGG (n.95-51_95-50insGGCGGG) c.687-8085_687-8084insGGCGGG (n.687-8085_687-8084insGGCGGG) c.1297-51_1297-50insGGCGGG (n.1297-51_1297-50insGGCGGG) n.2534-51_2534-50insGGCGGG n.995-2588_995-2587insGGCGGG | gnomAD v4 |
| 9 | g.133436778_133436779insGGGGGG | CA2692370120 | ADAMTS13 | c.1309-51_1309-50insGGGGGG (n.1309-51_1309-50insGGGGGG) c.1216-51_1216-50insGGGGGG (n.1216-51_1216-50insGGGGGG) c.565-51_565-50insGGGGGG (n.565-51_565-50insGGGGGG) c.*113-51_*113-50insGGGGGG (n.*113-51_*113-50insGGGGGG) n.974-2588_974-2587insGGGGGG c.*593-51_*593-50insGGGGGG (n.*593-51_*593-50insGGGGGG) n.993-2588_993-2587insGGGGGG c.919-51_919-50insGGGGGG (n.919-51_919-50insGGGGGG) c.325-51_325-50insGGGGGG (n.325-51_325-50insGGGGGG) c.319-51_319-50insGGGGGG (n.319-51_319-50insGGGGGG) c.-27-51_-27-50insGGGGGG (n.-27-51_-27-50insGGGGGG) c.95-51_95-50insGGGGGG (n.95-51_95-50insGGGGGG) c.687-8085_687-8084insGGGGGG (n.687-8085_687-8084insGGGGGG) c.1297-51_1297-50insGGGGGG (n.1297-51_1297-50insGGGGGG) n.2534-51_2534-50insGGGGGG n.995-2588_995-2587insGGGGGG | gnomAD v4 |
| 9 | g.133436778_133436779insGCCCCCC | CA2692370084 | ADAMTS13 | c.1309-51_1309-50insGCCCCCC (n.1309-51_1309-50insGCCCCCC) c.1216-51_1216-50insGCCCCCC (n.1216-51_1216-50insGCCCCCC) c.565-51_565-50insGCCCCCC (n.565-51_565-50insGCCCCCC) c.*113-51_*113-50insGCCCCCC (n.*113-51_*113-50insGCCCCCC) n.974-2588_974-2587insGCCCCCC c.*593-51_*593-50insGCCCCCC (n.*593-51_*593-50insGCCCCCC) n.993-2588_993-2587insGCCCCCC c.919-51_919-50insGCCCCCC (n.919-51_919-50insGCCCCCC) c.325-51_325-50insGCCCCCC (n.325-51_325-50insGCCCCCC) c.319-51_319-50insGCCCCCC (n.319-51_319-50insGCCCCCC) c.-27-51_-27-50insGCCCCCC (n.-27-51_-27-50insGCCCCCC) c.95-51_95-50insGCCCCCC (n.95-51_95-50insGCCCCCC) c.687-8085_687-8084insGCCCCCC (n.687-8085_687-8084insGCCCCCC) c.1297-51_1297-50insGCCCCCC (n.1297-51_1297-50insGCCCCCC) n.2534-51_2534-50insGCCCCCC n.995-2588_995-2587insGCCCCCC | gnomAD v4 |
| 9 | g.133436778_133436779insGCCGGGC | CA2692370073 | ADAMTS13 | c.1309-51_1309-50insGCCGGGC (n.1309-51_1309-50insGCCGGGC) c.1216-51_1216-50insGCCGGGC (n.1216-51_1216-50insGCCGGGC) c.565-51_565-50insGCCGGGC (n.565-51_565-50insGCCGGGC) c.*113-51_*113-50insGCCGGGC (n.*113-51_*113-50insGCCGGGC) n.974-2588_974-2587insGCCGGGC c.*593-51_*593-50insGCCGGGC (n.*593-51_*593-50insGCCGGGC) n.993-2588_993-2587insGCCGGGC c.919-51_919-50insGCCGGGC (n.919-51_919-50insGCCGGGC) c.325-51_325-50insGCCGGGC (n.325-51_325-50insGCCGGGC) c.319-51_319-50insGCCGGGC (n.319-51_319-50insGCCGGGC) c.-27-51_-27-50insGCCGGGC (n.-27-51_-27-50insGCCGGGC) c.95-51_95-50insGCCGGGC (n.95-51_95-50insGCCGGGC) c.687-8085_687-8084insGCCGGGC (n.687-8085_687-8084insGCCGGGC) c.1297-51_1297-50insGCCGGGC (n.1297-51_1297-50insGCCGGGC) n.2534-51_2534-50insGCCGGGC n.995-2588_995-2587insGCCGGGC | gnomAD v4 |
| 9 | g.133436778_133436779insGGCGGGC | CA2692370065 | ADAMTS13 | c.1309-51_1309-50insGGCGGGC (n.1309-51_1309-50insGGCGGGC) c.1216-51_1216-50insGGCGGGC (n.1216-51_1216-50insGGCGGGC) c.565-51_565-50insGGCGGGC (n.565-51_565-50insGGCGGGC) c.*113-51_*113-50insGGCGGGC (n.*113-51_*113-50insGGCGGGC) n.974-2588_974-2587insGGCGGGC c.*593-51_*593-50insGGCGGGC (n.*593-51_*593-50insGGCGGGC) n.993-2588_993-2587insGGCGGGC c.919-51_919-50insGGCGGGC (n.919-51_919-50insGGCGGGC) c.325-51_325-50insGGCGGGC (n.325-51_325-50insGGCGGGC) c.319-51_319-50insGGCGGGC (n.319-51_319-50insGGCGGGC) c.-27-51_-27-50insGGCGGGC (n.-27-51_-27-50insGGCGGGC) c.95-51_95-50insGGCGGGC (n.95-51_95-50insGGCGGGC) c.687-8085_687-8084insGGCGGGC (n.687-8085_687-8084insGGCGGGC) c.1297-51_1297-50insGGCGGGC (n.1297-51_1297-50insGGCGGGC) n.2534-51_2534-50insGGCGGGC n.995-2588_995-2587insGGCGGGC | gnomAD v4 |
| 9 | g.133436778_133436779insGGCGGGG | CA2692370066 | ADAMTS13 | c.1309-51_1309-50insGGCGGGG (n.1309-51_1309-50insGGCGGGG) c.1216-51_1216-50insGGCGGGG (n.1216-51_1216-50insGGCGGGG) c.565-51_565-50insGGCGGGG (n.565-51_565-50insGGCGGGG) c.*113-51_*113-50insGGCGGGG (n.*113-51_*113-50insGGCGGGG) n.974-2588_974-2587insGGCGGGG c.*593-51_*593-50insGGCGGGG (n.*593-51_*593-50insGGCGGGG) n.993-2588_993-2587insGGCGGGG c.919-51_919-50insGGCGGGG (n.919-51_919-50insGGCGGGG) c.325-51_325-50insGGCGGGG (n.325-51_325-50insGGCGGGG) c.319-51_319-50insGGCGGGG (n.319-51_319-50insGGCGGGG) c.-27-51_-27-50insGGCGGGG (n.-27-51_-27-50insGGCGGGG) c.95-51_95-50insGGCGGGG (n.95-51_95-50insGGCGGGG) c.687-8085_687-8084insGGCGGGG (n.687-8085_687-8084insGGCGGGG) c.1297-51_1297-50insGGCGGGG (n.1297-51_1297-50insGGCGGGG) n.2534-51_2534-50insGGCGGGG n.995-2588_995-2587insGGCGGGG | gnomAD v4 |
| 9 | g.133436778_133436779insGGGGGGC | CA2692370118 | ADAMTS13 | c.1309-51_1309-50insGGGGGGC (n.1309-51_1309-50insGGGGGGC) c.1216-51_1216-50insGGGGGGC (n.1216-51_1216-50insGGGGGGC) c.565-51_565-50insGGGGGGC (n.565-51_565-50insGGGGGGC) c.*113-51_*113-50insGGGGGGC (n.*113-51_*113-50insGGGGGGC) n.974-2588_974-2587insGGGGGGC c.*593-51_*593-50insGGGGGGC (n.*593-51_*593-50insGGGGGGC) n.993-2588_993-2587insGGGGGGC c.919-51_919-50insGGGGGGC (n.919-51_919-50insGGGGGGC) c.325-51_325-50insGGGGGGC (n.325-51_325-50insGGGGGGC) c.319-51_319-50insGGGGGGC (n.319-51_319-50insGGGGGGC) c.-27-51_-27-50insGGGGGGC (n.-27-51_-27-50insGGGGGGC) c.95-51_95-50insGGGGGGC (n.95-51_95-50insGGGGGGC) c.687-8085_687-8084insGGGGGGC (n.687-8085_687-8084insGGGGGGC) c.1297-51_1297-50insGGGGGGC (n.1297-51_1297-50insGGGGGGC) n.2534-51_2534-50insGGGGGGC n.995-2588_995-2587insGGGGGGC | gnomAD v4 |
| 9 | g.133436778_133436779insGGGGGGG | CA2692370117 | ADAMTS13 | c.1309-51_1309-50insGGGGGGG (n.1309-51_1309-50insGGGGGGG) c.1216-51_1216-50insGGGGGGG (n.1216-51_1216-50insGGGGGGG) c.565-51_565-50insGGGGGGG (n.565-51_565-50insGGGGGGG) c.*113-51_*113-50insGGGGGGG (n.*113-51_*113-50insGGGGGGG) n.974-2588_974-2587insGGGGGGG c.*593-51_*593-50insGGGGGGG (n.*593-51_*593-50insGGGGGGG) n.993-2588_993-2587insGGGGGGG c.919-51_919-50insGGGGGGG (n.919-51_919-50insGGGGGGG) c.325-51_325-50insGGGGGGG (n.325-51_325-50insGGGGGGG) c.319-51_319-50insGGGGGGG (n.319-51_319-50insGGGGGGG) c.-27-51_-27-50insGGGGGGG (n.-27-51_-27-50insGGGGGGG) c.95-51_95-50insGGGGGGG (n.95-51_95-50insGGGGGGG) c.687-8085_687-8084insGGGGGGG (n.687-8085_687-8084insGGGGGGG) c.1297-51_1297-50insGGGGGGG (n.1297-51_1297-50insGGGGGGG) n.2534-51_2534-50insGGGGGGG n.995-2588_995-2587insGGGGGGG | gnomAD v4 |
| 9 | g.133436778_133436779insGCCGCCCC | CA2692370083 | ADAMTS13 | c.1309-51_1309-50insGCCGCCCC (n.1309-51_1309-50insGCCGCCCC) c.1216-51_1216-50insGCCGCCCC (n.1216-51_1216-50insGCCGCCCC) c.565-51_565-50insGCCGCCCC (n.565-51_565-50insGCCGCCCC) c.*113-51_*113-50insGCCGCCCC (n.*113-51_*113-50insGCCGCCCC) n.974-2588_974-2587insGCCGCCCC c.*593-51_*593-50insGCCGCCCC (n.*593-51_*593-50insGCCGCCCC) n.993-2588_993-2587insGCCGCCCC c.919-51_919-50insGCCGCCCC (n.919-51_919-50insGCCGCCCC) c.325-51_325-50insGCCGCCCC (n.325-51_325-50insGCCGCCCC) c.319-51_319-50insGCCGCCCC (n.319-51_319-50insGCCGCCCC) c.-27-51_-27-50insGCCGCCCC (n.-27-51_-27-50insGCCGCCCC) c.95-51_95-50insGCCGCCCC (n.95-51_95-50insGCCGCCCC) c.687-8085_687-8084insGCCGCCCC (n.687-8085_687-8084insGCCGCCCC) c.1297-51_1297-50insGCCGCCCC (n.1297-51_1297-50insGCCGCCCC) n.2534-51_2534-50insGCCGCCCC n.995-2588_995-2587insGCCGCCCC | gnomAD v4 |
| 9 | g.133436778_133436779insGGCGCCCC | CA2692370052 | ADAMTS13 | c.1309-51_1309-50insGGCGCCCC (n.1309-51_1309-50insGGCGCCCC) c.1216-51_1216-50insGGCGCCCC (n.1216-51_1216-50insGGCGCCCC) c.565-51_565-50insGGCGCCCC (n.565-51_565-50insGGCGCCCC) c.*113-51_*113-50insGGCGCCCC (n.*113-51_*113-50insGGCGCCCC) n.974-2588_974-2587insGGCGCCCC c.*593-51_*593-50insGGCGCCCC (n.*593-51_*593-50insGGCGCCCC) n.993-2588_993-2587insGGCGCCCC c.919-51_919-50insGGCGCCCC (n.919-51_919-50insGGCGCCCC) c.325-51_325-50insGGCGCCCC (n.325-51_325-50insGGCGCCCC) c.319-51_319-50insGGCGCCCC (n.319-51_319-50insGGCGCCCC) c.-27-51_-27-50insGGCGCCCC (n.-27-51_-27-50insGGCGCCCC) c.95-51_95-50insGGCGCCCC (n.95-51_95-50insGGCGCCCC) c.687-8085_687-8084insGGCGCCCC (n.687-8085_687-8084insGGCGCCCC) c.1297-51_1297-50insGGCGCCCC (n.1297-51_1297-50insGGCGCCCC) n.2534-51_2534-50insGGCGCCCC n.995-2588_995-2587insGGCGCCCC | gnomAD v4 |
| 9 | g.133436778_133436779insGGCGGCCC | CA2692370060 | ADAMTS13 | c.1309-51_1309-50insGGCGGCCC (n.1309-51_1309-50insGGCGGCCC) c.1216-51_1216-50insGGCGGCCC (n.1216-51_1216-50insGGCGGCCC) c.565-51_565-50insGGCGGCCC (n.565-51_565-50insGGCGGCCC) c.*113-51_*113-50insGGCGGCCC (n.*113-51_*113-50insGGCGGCCC) n.974-2588_974-2587insGGCGGCCC c.*593-51_*593-50insGGCGGCCC (n.*593-51_*593-50insGGCGGCCC) n.993-2588_993-2587insGGCGGCCC c.919-51_919-50insGGCGGCCC (n.919-51_919-50insGGCGGCCC) c.325-51_325-50insGGCGGCCC (n.325-51_325-50insGGCGGCCC) c.319-51_319-50insGGCGGCCC (n.319-51_319-50insGGCGGCCC) c.-27-51_-27-50insGGCGGCCC (n.-27-51_-27-50insGGCGGCCC) c.95-51_95-50insGGCGGCCC (n.95-51_95-50insGGCGGCCC) c.687-8085_687-8084insGGCGGCCC (n.687-8085_687-8084insGGCGGCCC) c.1297-51_1297-50insGGCGGCCC (n.1297-51_1297-50insGGCGGCCC) n.2534-51_2534-50insGGCGGCCC n.995-2588_995-2587insGGCGGCCC | gnomAD v4 |
| 9 | g.133436778_133436779insGGGGGGGC | CA2692370115 | ADAMTS13 | c.1309-51_1309-50insGGGGGGGC (n.1309-51_1309-50insGGGGGGGC) c.1216-51_1216-50insGGGGGGGC (n.1216-51_1216-50insGGGGGGGC) c.565-51_565-50insGGGGGGGC (n.565-51_565-50insGGGGGGGC) c.*113-51_*113-50insGGGGGGGC (n.*113-51_*113-50insGGGGGGGC) n.974-2588_974-2587insGGGGGGGC c.*593-51_*593-50insGGGGGGGC (n.*593-51_*593-50insGGGGGGGC) n.993-2588_993-2587insGGGGGGGC c.919-51_919-50insGGGGGGGC (n.919-51_919-50insGGGGGGGC) c.325-51_325-50insGGGGGGGC (n.325-51_325-50insGGGGGGGC) c.319-51_319-50insGGGGGGGC (n.319-51_319-50insGGGGGGGC) c.-27-51_-27-50insGGGGGGGC (n.-27-51_-27-50insGGGGGGGC) c.95-51_95-50insGGGGGGGC (n.95-51_95-50insGGGGGGGC) c.687-8085_687-8084insGGGGGGGC (n.687-8085_687-8084insGGGGGGGC) c.1297-51_1297-50insGGGGGGGC (n.1297-51_1297-50insGGGGGGGC) n.2534-51_2534-50insGGGGGGGC n.995-2588_995-2587insGGGGGGGC | gnomAD v4 |
| 9 | g.133436778_133436779insGGGGGGGG | CA2692370114 | ADAMTS13 | c.1309-51_1309-50insGGGGGGGG (n.1309-51_1309-50insGGGGGGGG) c.1216-51_1216-50insGGGGGGGG (n.1216-51_1216-50insGGGGGGGG) c.565-51_565-50insGGGGGGGG (n.565-51_565-50insGGGGGGGG) c.*113-51_*113-50insGGGGGGGG (n.*113-51_*113-50insGGGGGGGG) n.974-2588_974-2587insGGGGGGGG c.*593-51_*593-50insGGGGGGGG (n.*593-51_*593-50insGGGGGGGG) n.993-2588_993-2587insGGGGGGGG c.919-51_919-50insGGGGGGGG (n.919-51_919-50insGGGGGGGG) c.325-51_325-50insGGGGGGGG (n.325-51_325-50insGGGGGGGG) c.319-51_319-50insGGGGGGGG (n.319-51_319-50insGGGGGGGG) c.-27-51_-27-50insGGGGGGGG (n.-27-51_-27-50insGGGGGGGG) c.95-51_95-50insGGGGGGGG (n.95-51_95-50insGGGGGGGG) c.687-8085_687-8084insGGGGGGGG (n.687-8085_687-8084insGGGGGGGG) c.1297-51_1297-50insGGGGGGGG (n.1297-51_1297-50insGGGGGGGG) n.2534-51_2534-50insGGGGGGGG n.995-2588_995-2587insGGGGGGGG | gnomAD v4 |
| 9 | g.133436778_133436779insACCCCCCCC | CA2579500364 | ADAMTS13 | c.1309-51_1309-50insACCCCCCCC (n.1309-51_1309-50insACCCCCCCC) c.1216-51_1216-50insACCCCCCCC (n.1216-51_1216-50insACCCCCCCC) c.565-51_565-50insACCCCCCCC (n.565-51_565-50insACCCCCCCC) c.*113-51_*113-50insACCCCCCCC (n.*113-51_*113-50insACCCCCCCC) n.974-2588_974-2587insACCCCCCCC c.*593-51_*593-50insACCCCCCCC (n.*593-51_*593-50insACCCCCCCC) n.993-2588_993-2587insACCCCCCCC c.919-51_919-50insACCCCCCCC (n.919-51_919-50insACCCCCCCC) c.325-51_325-50insACCCCCCCC (n.325-51_325-50insACCCCCCCC) c.319-51_319-50insACCCCCCCC (n.319-51_319-50insACCCCCCCC) c.-27-51_-27-50insACCCCCCCC (n.-27-51_-27-50insACCCCCCCC) c.95-51_95-50insACCCCCCCC (n.95-51_95-50insACCCCCCCC) c.687-8085_687-8084insACCCCCCCC (n.687-8085_687-8084insACCCCCCCC) c.1297-51_1297-50insACCCCCCCC (n.1297-51_1297-50insACCCCCCCC) n.2534-51_2534-50insACCCCCCCC n.995-2588_995-2587insACCCCCCCC | |
| 9 | g.133436778_133436779insGGGGGGGGG | CA2692370112 | ADAMTS13 | c.1309-51_1309-50insGGGGGGGGG (n.1309-51_1309-50insGGGGGGGGG) c.1216-51_1216-50insGGGGGGGGG (n.1216-51_1216-50insGGGGGGGGG) c.565-51_565-50insGGGGGGGGG (n.565-51_565-50insGGGGGGGGG) c.*113-51_*113-50insGGGGGGGGG (n.*113-51_*113-50insGGGGGGGGG) n.974-2588_974-2587insGGGGGGGGG c.*593-51_*593-50insGGGGGGGGG (n.*593-51_*593-50insGGGGGGGGG) n.993-2588_993-2587insGGGGGGGGG c.919-51_919-50insGGGGGGGGG (n.919-51_919-50insGGGGGGGGG) c.325-51_325-50insGGGGGGGGG (n.325-51_325-50insGGGGGGGGG) c.319-51_319-50insGGGGGGGGG (n.319-51_319-50insGGGGGGGGG) c.-27-51_-27-50insGGGGGGGGG (n.-27-51_-27-50insGGGGGGGGG) c.95-51_95-50insGGGGGGGGG (n.95-51_95-50insGGGGGGGGG) c.687-8085_687-8084insGGGGGGGGG (n.687-8085_687-8084insGGGGGGGGG) c.1297-51_1297-50insGGGGGGGGG (n.1297-51_1297-50insGGGGGGGGG) n.2534-51_2534-50insGGGGGGGGG n.995-2588_995-2587insGGGGGGGGG | gnomAD v4 |
| 9 | g.133436778_133436779insGGCGGGGGGGG | CA2692370055 | ADAMTS13 | c.1309-51_1309-50insGGCGGGGGGGG (n.1309-51_1309-50insGGCGGGGGGGG) c.1216-51_1216-50insGGCGGGGGGGG (n.1216-51_1216-50insGGCGGGGGGGG) c.565-51_565-50insGGCGGGGGGGG (n.565-51_565-50insGGCGGGGGGGG) c.*113-51_*113-50insGGCGGGGGGGG (n.*113-51_*113-50insGGCGGGGGGGG) n.974-2588_974-2587insGGCGGGGGGGG c.*593-51_*593-50insGGCGGGGGGGG (n.*593-51_*593-50insGGCGGGGGGGG) n.993-2588_993-2587insGGCGGGGGGGG c.919-51_919-50insGGCGGGGGGGG (n.919-51_919-50insGGCGGGGGGGG) c.325-51_325-50insGGCGGGGGGGG (n.325-51_325-50insGGCGGGGGGGG) c.319-51_319-50insGGCGGGGGGGG (n.319-51_319-50insGGCGGGGGGGG) c.-27-51_-27-50insGGCGGGGGGGG (n.-27-51_-27-50insGGCGGGGGGGG) c.95-51_95-50insGGCGGGGGGGG (n.95-51_95-50insGGCGGGGGGGG) c.687-8085_687-8084insGGCGGGGGGGG (n.687-8085_687-8084insGGCGGGGGGGG) c.1297-51_1297-50insGGCGGGGGGGG (n.1297-51_1297-50insGGCGGGGGGGG) n.2534-51_2534-50insGGCGGGGGGGG n.995-2588_995-2587insGGCGGGGGGGG | gnomAD v4 |
| 9 | g.133436778_133436779insGGGGGGGGGGG | CA2692370088 | ADAMTS13 | c.1309-51_1309-50insGGGGGGGGGGG (n.1309-51_1309-50insGGGGGGGGGGG) c.1216-51_1216-50insGGGGGGGGGGG (n.1216-51_1216-50insGGGGGGGGGGG) c.565-51_565-50insGGGGGGGGGGG (n.565-51_565-50insGGGGGGGGGGG) c.*113-51_*113-50insGGGGGGGGGGG (n.*113-51_*113-50insGGGGGGGGGGG) n.974-2588_974-2587insGGGGGGGGGGG c.*593-51_*593-50insGGGGGGGGGGG (n.*593-51_*593-50insGGGGGGGGGGG) n.993-2588_993-2587insGGGGGGGGGGG c.919-51_919-50insGGGGGGGGGGG (n.919-51_919-50insGGGGGGGGGGG) c.325-51_325-50insGGGGGGGGGGG (n.325-51_325-50insGGGGGGGGGGG) c.319-51_319-50insGGGGGGGGGGG (n.319-51_319-50insGGGGGGGGGGG) c.-27-51_-27-50insGGGGGGGGGGG (n.-27-51_-27-50insGGGGGGGGGGG) c.95-51_95-50insGGGGGGGGGGG (n.95-51_95-50insGGGGGGGGGGG) c.687-8085_687-8084insGGGGGGGGGGG (n.687-8085_687-8084insGGGGGGGGGGG) c.1297-51_1297-50insGGGGGGGGGGG (n.1297-51_1297-50insGGGGGGGGGGG) n.2534-51_2534-50insGGGGGGGGGGG n.995-2588_995-2587insGGGGGGGGGGG | gnomAD v4 |
| 9 | g.133436778_133436779insACCCCCCCCCCC | CA2692370236 | ADAMTS13 | c.1309-51_1309-50insACCCCCCCCCCC (n.1309-51_1309-50insACCCCCCCCCCC) c.1216-51_1216-50insACCCCCCCCCCC (n.1216-51_1216-50insACCCCCCCCCCC) c.565-51_565-50insACCCCCCCCCCC (n.565-51_565-50insACCCCCCCCCCC) c.*113-51_*113-50insACCCCCCCCCCC (n.*113-51_*113-50insACCCCCCCCCCC) n.974-2588_974-2587insACCCCCCCCCCC c.*593-51_*593-50insACCCCCCCCCCC (n.*593-51_*593-50insACCCCCCCCCCC) n.993-2588_993-2587insACCCCCCCCCCC c.919-51_919-50insACCCCCCCCCCC (n.919-51_919-50insACCCCCCCCCCC) c.325-51_325-50insACCCCCCCCCCC (n.325-51_325-50insACCCCCCCCCCC) c.319-51_319-50insACCCCCCCCCCC (n.319-51_319-50insACCCCCCCCCCC) c.-27-51_-27-50insACCCCCCCCCCC (n.-27-51_-27-50insACCCCCCCCCCC) c.95-51_95-50insACCCCCCCCCCC (n.95-51_95-50insACCCCCCCCCCC) c.687-8085_687-8084insACCCCCCCCCCC (n.687-8085_687-8084insACCCCCCCCCCC) c.1297-51_1297-50insACCCCCCCCCCC (n.1297-51_1297-50insACCCCCCCCCCC) n.2534-51_2534-50insACCCCCCCCCCC n.995-2588_995-2587insACCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436778_133436779insGCCGCCCCCCCC | CA2692370081 | ADAMTS13 | c.1309-51_1309-50insGCCGCCCCCCCC (n.1309-51_1309-50insGCCGCCCCCCCC) c.1216-51_1216-50insGCCGCCCCCCCC (n.1216-51_1216-50insGCCGCCCCCCCC) c.565-51_565-50insGCCGCCCCCCCC (n.565-51_565-50insGCCGCCCCCCCC) c.*113-51_*113-50insGCCGCCCCCCCC (n.*113-51_*113-50insGCCGCCCCCCCC) n.974-2588_974-2587insGCCGCCCCCCCC c.*593-51_*593-50insGCCGCCCCCCCC (n.*593-51_*593-50insGCCGCCCCCCCC) n.993-2588_993-2587insGCCGCCCCCCCC c.919-51_919-50insGCCGCCCCCCCC (n.919-51_919-50insGCCGCCCCCCCC) c.325-51_325-50insGCCGCCCCCCCC (n.325-51_325-50insGCCGCCCCCCCC) c.319-51_319-50insGCCGCCCCCCCC (n.319-51_319-50insGCCGCCCCCCCC) c.-27-51_-27-50insGCCGCCCCCCCC (n.-27-51_-27-50insGCCGCCCCCCCC) c.95-51_95-50insGCCGCCCCCCCC (n.95-51_95-50insGCCGCCCCCCCC) c.687-8085_687-8084insGCCGCCCCCCCC (n.687-8085_687-8084insGCCGCCCCCCCC) c.1297-51_1297-50insGCCGCCCCCCCC (n.1297-51_1297-50insGCCGCCCCCCCC) n.2534-51_2534-50insGCCGCCCCCCCC n.995-2588_995-2587insGCCGCCCCCCCC | gnomAD v4 |
| 9 | g.133436778_133436779insACCCCCCCCCCCC | CA2692370234 | ADAMTS13 | c.1309-51_1309-50insACCCCCCCCCCCC (n.1309-51_1309-50insACCCCCCCCCCCC) c.1216-51_1216-50insACCCCCCCCCCCC (n.1216-51_1216-50insACCCCCCCCCCCC) c.565-51_565-50insACCCCCCCCCCCC (n.565-51_565-50insACCCCCCCCCCCC) c.*113-51_*113-50insACCCCCCCCCCCC (n.*113-51_*113-50insACCCCCCCCCCCC) n.974-2588_974-2587insACCCCCCCCCCCC c.*593-51_*593-50insACCCCCCCCCCCC (n.*593-51_*593-50insACCCCCCCCCCCC) n.993-2588_993-2587insACCCCCCCCCCCC c.919-51_919-50insACCCCCCCCCCCC (n.919-51_919-50insACCCCCCCCCCCC) c.325-51_325-50insACCCCCCCCCCCC (n.325-51_325-50insACCCCCCCCCCCC) c.319-51_319-50insACCCCCCCCCCCC (n.319-51_319-50insACCCCCCCCCCCC) c.-27-51_-27-50insACCCCCCCCCCCC (n.-27-51_-27-50insACCCCCCCCCCCC) c.95-51_95-50insACCCCCCCCCCCC (n.95-51_95-50insACCCCCCCCCCCC) c.687-8085_687-8084insACCCCCCCCCCCC (n.687-8085_687-8084insACCCCCCCCCCCC) c.1297-51_1297-50insACCCCCCCCCCCC (n.1297-51_1297-50insACCCCCCCCCCCC) n.2534-51_2534-50insACCCCCCCCCCCC n.995-2588_995-2587insACCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436778_133436779insGCCGGCCCCCCCC | CA2692370077 | ADAMTS13 | c.1309-51_1309-50insGCCGGCCCCCCCC (n.1309-51_1309-50insGCCGGCCCCCCCC) c.1216-51_1216-50insGCCGGCCCCCCCC (n.1216-51_1216-50insGCCGGCCCCCCCC) c.565-51_565-50insGCCGGCCCCCCCC (n.565-51_565-50insGCCGGCCCCCCCC) c.*113-51_*113-50insGCCGGCCCCCCCC (n.*113-51_*113-50insGCCGGCCCCCCCC) n.974-2588_974-2587insGCCGGCCCCCCCC c.*593-51_*593-50insGCCGGCCCCCCCC (n.*593-51_*593-50insGCCGGCCCCCCCC) n.993-2588_993-2587insGCCGGCCCCCCCC c.919-51_919-50insGCCGGCCCCCCCC (n.919-51_919-50insGCCGGCCCCCCCC) c.325-51_325-50insGCCGGCCCCCCCC (n.325-51_325-50insGCCGGCCCCCCCC) c.319-51_319-50insGCCGGCCCCCCCC (n.319-51_319-50insGCCGGCCCCCCCC) c.-27-51_-27-50insGCCGGCCCCCCCC (n.-27-51_-27-50insGCCGGCCCCCCCC) c.95-51_95-50insGCCGGCCCCCCCC (n.95-51_95-50insGCCGGCCCCCCCC) c.687-8085_687-8084insGCCGGCCCCCCCC (n.687-8085_687-8084insGCCGGCCCCCCCC) c.1297-51_1297-50insGCCGGCCCCCCCC (n.1297-51_1297-50insGCCGGCCCCCCCC) n.2534-51_2534-50insGCCGGCCCCCCCC n.995-2588_995-2587insGCCGGCCCCCCCC | gnomAD v4 |
| 9 | g.133436778_133436779insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG | CA2692370110 | ADAMTS13 | c.1309-51_1309-50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG (n.1309-51_1309-50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG) c.1216-51_1216-50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG (n.1216-51_1216-50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG) c.565-51_565-50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG (n.565-51_565-50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG) c.*113-51_*113-50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG (n.*113-51_*113-50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG) n.974-2588_974-2587insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG c.*593-51_*593-50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG (n.*593-51_*593-50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG) n.993-2588_993-2587insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG c.919-51_919-50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG (n.919-51_919-50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG) c.325-51_325-50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG (n.325-51_325-50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG) c.319-51_319-50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG (n.319-51_319-50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG) c.-27-51_-27-50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG (n.-27-51_-27-50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG) c.95-51_95-50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG (n.95-51_95-50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG) c.687-8085_687-8084insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG (n.687-8085_687-8084insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG) c.1297-51_1297-50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG (n.1297-51_1297-50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG) n.2534-51_2534-50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG n.995-2588_995-2587insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGCCG | gnomAD v4 |
| 9 | g.133436779C>A | CA860755347 | ADAMTS13 | c.1309-50C>A (n.1309-50C>A) c.1216-50C>A (n.1216-50C>A) c.565-50C>A (n.565-50C>A) c.*113-50C>A (n.*113-50C>A) n.974-2587C>A c.*593-50C>A (n.*593-50C>A) n.993-2587C>A c.919-50C>A (n.919-50C>A) c.325-50C>A (n.325-50C>A) c.319-50C>A (n.319-50C>A) c.-27-50C>A (n.-27-50C>A) c.95-50C>A (n.95-50C>A) c.687-8084C>A (n.687-8084C>A) c.1297-50C>A (n.1297-50C>A) n.2534-50C>A n.995-2587C>A | dbSNP gnomAD v4 |
| 9 | g.133436779C= | CA1882673066 | ADAMTS13 | c.1309-50C= (n.1309-50C=) c.1216-50C= (n.1216-50C=) c.565-50C= (n.565-50C=) c.*113-50C= (n.*113-50C=) n.974-2587C= c.*593-50C= (n.*593-50C=) n.993-2587C= c.919-50C= (n.919-50C=) c.325-50C= (n.325-50C=) c.319-50C= (n.319-50C=) c.-27-50C= (n.-27-50C=) c.95-50C= (n.95-50C=) c.687-8084C= (n.687-8084C=) c.1297-50C= (n.1297-50C=) n.2534-50C= n.995-2587C= | |
| 9 | g.133436779C>G | CA2579500361 | ADAMTS13 | c.1309-50C>G (n.1309-50C>G) c.1216-50C>G (n.1216-50C>G) c.565-50C>G (n.565-50C>G) c.*113-50C>G (n.*113-50C>G) n.974-2587C>G c.*593-50C>G (n.*593-50C>G) n.993-2587C>G c.919-50C>G (n.919-50C>G) c.325-50C>G (n.325-50C>G) c.319-50C>G (n.319-50C>G) c.-27-50C>G (n.-27-50C>G) c.95-50C>G (n.95-50C>G) c.687-8084C>G (n.687-8084C>G) c.1297-50C>G (n.1297-50C>G) n.2534-50C>G n.995-2587C>G | gnomAD v4 |
| 9 | g.133436779C>T | CA2692370091 | ADAMTS13 | c.1309-50C>T (n.1309-50C>T) c.1216-50C>T (n.1216-50C>T) c.565-50C>T (n.565-50C>T) c.*113-50C>T (n.*113-50C>T) n.974-2587C>T c.*593-50C>T (n.*593-50C>T) n.993-2587C>T c.919-50C>T (n.919-50C>T) c.325-50C>T (n.325-50C>T) c.319-50C>T (n.319-50C>T) c.-27-50C>T (n.-27-50C>T) c.95-50C>T (n.95-50C>T) c.687-8084C>T (n.687-8084C>T) c.1297-50C>T (n.1297-50C>T) n.2534-50C>T n.995-2587C>T | gnomAD v4 |
| 9 | g.133436779_133436781del | CA2692370100 | ADAMTS13 | c.1309-50_1309-48del (n.1309-50_1309-48del) c.1216-50_1216-48del (n.1216-50_1216-48del) c.565-50_565-48del (n.565-50_565-48del) c.*113-50_*113-48del (n.*113-50_*113-48del) n.974-2587_974-2585del c.*593-50_*593-48del (n.*593-50_*593-48del) n.993-2587_993-2585del c.919-50_919-48del (n.919-50_919-48del) c.325-50_325-48del (n.325-50_325-48del) c.319-50_319-48del (n.319-50_319-48del) c.-27-50_-27-48del (n.-27-50_-27-48del) c.95-50_95-48del (n.95-50_95-48del) c.687-8084_687-8082del (n.687-8084_687-8082del) c.1297-50_1297-48del (n.1297-50_1297-48del) n.2534-50_2534-48del n.995-2587_995-2585del | gnomAD v4 |
| 9 | g.133436781_133436782insCCCC | CA918570520 | ADAMTS13 | c.1309-48_1309-47insCCCC (n.1309-48_1309-47insCCCC) c.1216-48_1216-47insCCCC (n.1216-48_1216-47insCCCC) c.565-48_565-47insCCCC (n.565-48_565-47insCCCC) c.*113-48_*113-47insCCCC (n.*113-48_*113-47insCCCC) n.974-2585_974-2584insCCCC c.*593-48_*593-47insCCCC (n.*593-48_*593-47insCCCC) n.993-2585_993-2584insCCCC c.919-48_919-47insCCCC (n.919-48_919-47insCCCC) c.325-48_325-47insCCCC (n.325-48_325-47insCCCC) c.319-48_319-47insCCCC (n.319-48_319-47insCCCC) c.-27-48_-27-47insCCCC (n.-27-48_-27-47insCCCC) c.95-48_95-47insCCCC (n.95-48_95-47insCCCC) c.687-8082_687-8081insCCCC (n.687-8082_687-8081insCCCC) c.1297-48_1297-47insCCCC (n.1297-48_1297-47insCCCC) n.2534-48_2534-47insCCCC n.995-2585_995-2584insCCCC | dbSNP gnomAD v4 |
| 9 | g.133436781_133436782insCCCCC | CA2692370202 | ADAMTS13 | c.1309-48_1309-47insCCCCC (n.1309-48_1309-47insCCCCC) c.1216-48_1216-47insCCCCC (n.1216-48_1216-47insCCCCC) c.565-48_565-47insCCCCC (n.565-48_565-47insCCCCC) c.*113-48_*113-47insCCCCC (n.*113-48_*113-47insCCCCC) n.974-2585_974-2584insCCCCC c.*593-48_*593-47insCCCCC (n.*593-48_*593-47insCCCCC) n.993-2585_993-2584insCCCCC c.919-48_919-47insCCCCC (n.919-48_919-47insCCCCC) c.325-48_325-47insCCCCC (n.325-48_325-47insCCCCC) c.319-48_319-47insCCCCC (n.319-48_319-47insCCCCC) c.-27-48_-27-47insCCCCC (n.-27-48_-27-47insCCCCC) c.95-48_95-47insCCCCC (n.95-48_95-47insCCCCC) c.687-8082_687-8081insCCCCC (n.687-8082_687-8081insCCCCC) c.1297-48_1297-47insCCCCC (n.1297-48_1297-47insCCCCC) n.2534-48_2534-47insCCCCC n.995-2585_995-2584insCCCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCC | CA1129743468 | ADAMTS13 | c.1309-48_1309-47insCCCCCC (n.1309-48_1309-47insCCCCCC) c.1216-48_1216-47insCCCCCC (n.1216-48_1216-47insCCCCCC) c.565-48_565-47insCCCCCC (n.565-48_565-47insCCCCCC) c.*113-48_*113-47insCCCCCC (n.*113-48_*113-47insCCCCCC) n.974-2585_974-2584insCCCCCC c.*593-48_*593-47insCCCCCC (n.*593-48_*593-47insCCCCCC) n.993-2585_993-2584insCCCCCC c.919-48_919-47insCCCCCC (n.919-48_919-47insCCCCCC) c.325-48_325-47insCCCCCC (n.325-48_325-47insCCCCCC) c.319-48_319-47insCCCCCC (n.319-48_319-47insCCCCCC) c.-27-48_-27-47insCCCCCC (n.-27-48_-27-47insCCCCCC) c.95-48_95-47insCCCCCC (n.95-48_95-47insCCCCCC) c.687-8082_687-8081insCCCCCC (n.687-8082_687-8081insCCCCCC) c.1297-48_1297-47insCCCCCC (n.1297-48_1297-47insCCCCCC) n.2534-48_2534-47insCCCCCC n.995-2585_995-2584insCCCCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCC | CA2692370165 | ADAMTS13 | c.1309-48_1309-47insCCCCCCC (n.1309-48_1309-47insCCCCCCC) c.1216-48_1216-47insCCCCCCC (n.1216-48_1216-47insCCCCCCC) c.565-48_565-47insCCCCCCC (n.565-48_565-47insCCCCCCC) c.*113-48_*113-47insCCCCCCC (n.*113-48_*113-47insCCCCCCC) n.974-2585_974-2584insCCCCCCC c.*593-48_*593-47insCCCCCCC (n.*593-48_*593-47insCCCCCCC) n.993-2585_993-2584insCCCCCCC c.919-48_919-47insCCCCCCC (n.919-48_919-47insCCCCCCC) c.325-48_325-47insCCCCCCC (n.325-48_325-47insCCCCCCC) c.319-48_319-47insCCCCCCC (n.319-48_319-47insCCCCCCC) c.-27-48_-27-47insCCCCCCC (n.-27-48_-27-47insCCCCCCC) c.95-48_95-47insCCCCCCC (n.95-48_95-47insCCCCCCC) c.687-8082_687-8081insCCCCCCC (n.687-8082_687-8081insCCCCCCC) c.1297-48_1297-47insCCCCCCC (n.1297-48_1297-47insCCCCCCC) n.2534-48_2534-47insCCCCCCC n.995-2585_995-2584insCCCCCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCC | CA2579500363 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCC (n.1309-48_1309-47insCCCCCCCC) c.1216-48_1216-47insCCCCCCCC (n.1216-48_1216-47insCCCCCCCC) c.565-48_565-47insCCCCCCCC (n.565-48_565-47insCCCCCCCC) c.*113-48_*113-47insCCCCCCCC (n.*113-48_*113-47insCCCCCCCC) n.974-2585_974-2584insCCCCCCCC c.*593-48_*593-47insCCCCCCCC (n.*593-48_*593-47insCCCCCCCC) n.993-2585_993-2584insCCCCCCCC c.919-48_919-47insCCCCCCCC (n.919-48_919-47insCCCCCCCC) c.325-48_325-47insCCCCCCCC (n.325-48_325-47insCCCCCCCC) c.319-48_319-47insCCCCCCCC (n.319-48_319-47insCCCCCCCC) c.-27-48_-27-47insCCCCCCCC (n.-27-48_-27-47insCCCCCCCC) c.95-48_95-47insCCCCCCCC (n.95-48_95-47insCCCCCCCC) c.687-8082_687-8081insCCCCCCCC (n.687-8082_687-8081insCCCCCCCC) c.1297-48_1297-47insCCCCCCCC (n.1297-48_1297-47insCCCCCCCC) n.2534-48_2534-47insCCCCCCCC n.995-2585_995-2584insCCCCCCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCC | CA2692370159 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCC (n.1309-48_1309-47insCCCCCCCCC) c.1216-48_1216-47insCCCCCCCCC (n.1216-48_1216-47insCCCCCCCCC) c.565-48_565-47insCCCCCCCCC (n.565-48_565-47insCCCCCCCCC) c.*113-48_*113-47insCCCCCCCCC (n.*113-48_*113-47insCCCCCCCCC) n.974-2585_974-2584insCCCCCCCCC c.*593-48_*593-47insCCCCCCCCC (n.*593-48_*593-47insCCCCCCCCC) n.993-2585_993-2584insCCCCCCCCC c.919-48_919-47insCCCCCCCCC (n.919-48_919-47insCCCCCCCCC) c.325-48_325-47insCCCCCCCCC (n.325-48_325-47insCCCCCCCCC) c.319-48_319-47insCCCCCCCCC (n.319-48_319-47insCCCCCCCCC) c.-27-48_-27-47insCCCCCCCCC (n.-27-48_-27-47insCCCCCCCCC) c.95-48_95-47insCCCCCCCCC (n.95-48_95-47insCCCCCCCCC) c.687-8082_687-8081insCCCCCCCCC (n.687-8082_687-8081insCCCCCCCCC) c.1297-48_1297-47insCCCCCCCCC (n.1297-48_1297-47insCCCCCCCCC) n.2534-48_2534-47insCCCCCCCCC n.995-2585_995-2584insCCCCCCCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCC | CA2692370156 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCC (n.1309-48_1309-47insCCCCCCCCCC) c.1216-48_1216-47insCCCCCCCCCC (n.1216-48_1216-47insCCCCCCCCCC) c.565-48_565-47insCCCCCCCCCC (n.565-48_565-47insCCCCCCCCCC) c.*113-48_*113-47insCCCCCCCCCC (n.*113-48_*113-47insCCCCCCCCCC) n.974-2585_974-2584insCCCCCCCCCC c.*593-48_*593-47insCCCCCCCCCC (n.*593-48_*593-47insCCCCCCCCCC) n.993-2585_993-2584insCCCCCCCCCC c.919-48_919-47insCCCCCCCCCC (n.919-48_919-47insCCCCCCCCCC) c.325-48_325-47insCCCCCCCCCC (n.325-48_325-47insCCCCCCCCCC) c.319-48_319-47insCCCCCCCCCC (n.319-48_319-47insCCCCCCCCCC) c.-27-48_-27-47insCCCCCCCCCC (n.-27-48_-27-47insCCCCCCCCCC) c.95-48_95-47insCCCCCCCCCC (n.95-48_95-47insCCCCCCCCCC) c.687-8082_687-8081insCCCCCCCCCC (n.687-8082_687-8081insCCCCCCCCCC) c.1297-48_1297-47insCCCCCCCCCC (n.1297-48_1297-47insCCCCCCCCCC) n.2534-48_2534-47insCCCCCCCCCC n.995-2585_995-2584insCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCCC | CA2692370152 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCC (n.1309-48_1309-47insCCCCCCCCCCC) c.1216-48_1216-47insCCCCCCCCCCC (n.1216-48_1216-47insCCCCCCCCCCC) c.565-48_565-47insCCCCCCCCCCC (n.565-48_565-47insCCCCCCCCCCC) c.*113-48_*113-47insCCCCCCCCCCC (n.*113-48_*113-47insCCCCCCCCCCC) n.974-2585_974-2584insCCCCCCCCCCC c.*593-48_*593-47insCCCCCCCCCCC (n.*593-48_*593-47insCCCCCCCCCCC) n.993-2585_993-2584insCCCCCCCCCCC c.919-48_919-47insCCCCCCCCCCC (n.919-48_919-47insCCCCCCCCCCC) c.325-48_325-47insCCCCCCCCCCC (n.325-48_325-47insCCCCCCCCCCC) c.319-48_319-47insCCCCCCCCCCC (n.319-48_319-47insCCCCCCCCCCC) c.-27-48_-27-47insCCCCCCCCCCC (n.-27-48_-27-47insCCCCCCCCCCC) c.95-48_95-47insCCCCCCCCCCC (n.95-48_95-47insCCCCCCCCCCC) c.687-8082_687-8081insCCCCCCCCCCC (n.687-8082_687-8081insCCCCCCCCCCC) c.1297-48_1297-47insCCCCCCCCCCC (n.1297-48_1297-47insCCCCCCCCCCC) n.2534-48_2534-47insCCCCCCCCCCC n.995-2585_995-2584insCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCCCC | CA918570521 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCC (n.1309-48_1309-47insCCCCCCCCCCCC) c.1216-48_1216-47insCCCCCCCCCCCC (n.1216-48_1216-47insCCCCCCCCCCCC) c.565-48_565-47insCCCCCCCCCCCC (n.565-48_565-47insCCCCCCCCCCCC) c.*113-48_*113-47insCCCCCCCCCCCC (n.*113-48_*113-47insCCCCCCCCCCCC) n.974-2585_974-2584insCCCCCCCCCCCC c.*593-48_*593-47insCCCCCCCCCCCC (n.*593-48_*593-47insCCCCCCCCCCCC) n.993-2585_993-2584insCCCCCCCCCCCC c.919-48_919-47insCCCCCCCCCCCC (n.919-48_919-47insCCCCCCCCCCCC) c.325-48_325-47insCCCCCCCCCCCC (n.325-48_325-47insCCCCCCCCCCCC) c.319-48_319-47insCCCCCCCCCCCC (n.319-48_319-47insCCCCCCCCCCCC) c.-27-48_-27-47insCCCCCCCCCCCC (n.-27-48_-27-47insCCCCCCCCCCCC) c.95-48_95-47insCCCCCCCCCCCC (n.95-48_95-47insCCCCCCCCCCCC) c.687-8082_687-8081insCCCCCCCCCCCC (n.687-8082_687-8081insCCCCCCCCCCCC) c.1297-48_1297-47insCCCCCCCCCCCC (n.1297-48_1297-47insCCCCCCCCCCCC) n.2534-48_2534-47insCCCCCCCCCCCC n.995-2585_995-2584insCCCCCCCCCCCC | dbSNP gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCCCCC | CA2692370147 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCC (n.1309-48_1309-47insCCCCCCCCCCCCC) c.1216-48_1216-47insCCCCCCCCCCCCC (n.1216-48_1216-47insCCCCCCCCCCCCC) c.565-48_565-47insCCCCCCCCCCCCC (n.565-48_565-47insCCCCCCCCCCCCC) c.*113-48_*113-47insCCCCCCCCCCCCC (n.*113-48_*113-47insCCCCCCCCCCCCC) n.974-2585_974-2584insCCCCCCCCCCCCC c.*593-48_*593-47insCCCCCCCCCCCCC (n.*593-48_*593-47insCCCCCCCCCCCCC) n.993-2585_993-2584insCCCCCCCCCCCCC c.919-48_919-47insCCCCCCCCCCCCC (n.919-48_919-47insCCCCCCCCCCCCC) c.325-48_325-47insCCCCCCCCCCCCC (n.325-48_325-47insCCCCCCCCCCCCC) c.319-48_319-47insCCCCCCCCCCCCC (n.319-48_319-47insCCCCCCCCCCCCC) c.-27-48_-27-47insCCCCCCCCCCCCC (n.-27-48_-27-47insCCCCCCCCCCCCC) c.95-48_95-47insCCCCCCCCCCCCC (n.95-48_95-47insCCCCCCCCCCCCC) c.687-8082_687-8081insCCCCCCCCCCCCC (n.687-8082_687-8081insCCCCCCCCCCCCC) c.1297-48_1297-47insCCCCCCCCCCCCC (n.1297-48_1297-47insCCCCCCCCCCCCC) n.2534-48_2534-47insCCCCCCCCCCCCC n.995-2585_995-2584insCCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCC | CA2692370142 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCC (n.1309-48_1309-47insCCCCCCCCCCCCCC) c.1216-48_1216-47insCCCCCCCCCCCCCC (n.1216-48_1216-47insCCCCCCCCCCCCCC) c.565-48_565-47insCCCCCCCCCCCCCC (n.565-48_565-47insCCCCCCCCCCCCCC) c.*113-48_*113-47insCCCCCCCCCCCCCC (n.*113-48_*113-47insCCCCCCCCCCCCCC) n.974-2585_974-2584insCCCCCCCCCCCCCC c.*593-48_*593-47insCCCCCCCCCCCCCC (n.*593-48_*593-47insCCCCCCCCCCCCCC) n.993-2585_993-2584insCCCCCCCCCCCCCC c.919-48_919-47insCCCCCCCCCCCCCC (n.919-48_919-47insCCCCCCCCCCCCCC) c.325-48_325-47insCCCCCCCCCCCCCC (n.325-48_325-47insCCCCCCCCCCCCCC) c.319-48_319-47insCCCCCCCCCCCCCC (n.319-48_319-47insCCCCCCCCCCCCCC) c.-27-48_-27-47insCCCCCCCCCCCCCC (n.-27-48_-27-47insCCCCCCCCCCCCCC) c.95-48_95-47insCCCCCCCCCCCCCC (n.95-48_95-47insCCCCCCCCCCCCCC) c.687-8082_687-8081insCCCCCCCCCCCCCC (n.687-8082_687-8081insCCCCCCCCCCCCCC) c.1297-48_1297-47insCCCCCCCCCCCCCC (n.1297-48_1297-47insCCCCCCCCCCCCCC) n.2534-48_2534-47insCCCCCCCCCCCCCC n.995-2585_995-2584insCCCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCC | CA2692370137 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCC (n.1309-48_1309-47insCCCCCCCCCCCCCCC) c.1216-48_1216-47insCCCCCCCCCCCCCCC (n.1216-48_1216-47insCCCCCCCCCCCCCCC) c.565-48_565-47insCCCCCCCCCCCCCCC (n.565-48_565-47insCCCCCCCCCCCCCCC) c.*113-48_*113-47insCCCCCCCCCCCCCCC (n.*113-48_*113-47insCCCCCCCCCCCCCCC) n.974-2585_974-2584insCCCCCCCCCCCCCCC c.*593-48_*593-47insCCCCCCCCCCCCCCC (n.*593-48_*593-47insCCCCCCCCCCCCCCC) n.993-2585_993-2584insCCCCCCCCCCCCCCC c.919-48_919-47insCCCCCCCCCCCCCCC (n.919-48_919-47insCCCCCCCCCCCCCCC) c.325-48_325-47insCCCCCCCCCCCCCCC (n.325-48_325-47insCCCCCCCCCCCCCCC) c.319-48_319-47insCCCCCCCCCCCCCCC (n.319-48_319-47insCCCCCCCCCCCCCCC) c.-27-48_-27-47insCCCCCCCCCCCCCCC (n.-27-48_-27-47insCCCCCCCCCCCCCCC) c.95-48_95-47insCCCCCCCCCCCCCCC (n.95-48_95-47insCCCCCCCCCCCCCCC) c.687-8082_687-8081insCCCCCCCCCCCCCCC (n.687-8082_687-8081insCCCCCCCCCCCCCCC) c.1297-48_1297-47insCCCCCCCCCCCCCCC (n.1297-48_1297-47insCCCCCCCCCCCCCCC) n.2534-48_2534-47insCCCCCCCCCCCCCCC n.995-2585_995-2584insCCCCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCCC | CA2692370304 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCCC (n.1309-48_1309-47insCCCCCCCCCCCCCCCC) c.1216-48_1216-47insCCCCCCCCCCCCCCCC (n.1216-48_1216-47insCCCCCCCCCCCCCCCC) c.565-48_565-47insCCCCCCCCCCCCCCCC (n.565-48_565-47insCCCCCCCCCCCCCCCC) c.*113-48_*113-47insCCCCCCCCCCCCCCCC (n.*113-48_*113-47insCCCCCCCCCCCCCCCC) n.974-2585_974-2584insCCCCCCCCCCCCCCCC c.*593-48_*593-47insCCCCCCCCCCCCCCCC (n.*593-48_*593-47insCCCCCCCCCCCCCCCC) n.993-2585_993-2584insCCCCCCCCCCCCCCCC c.919-48_919-47insCCCCCCCCCCCCCCCC (n.919-48_919-47insCCCCCCCCCCCCCCCC) c.325-48_325-47insCCCCCCCCCCCCCCCC (n.325-48_325-47insCCCCCCCCCCCCCCCC) c.319-48_319-47insCCCCCCCCCCCCCCCC (n.319-48_319-47insCCCCCCCCCCCCCCCC) c.-27-48_-27-47insCCCCCCCCCCCCCCCC (n.-27-48_-27-47insCCCCCCCCCCCCCCCC) c.95-48_95-47insCCCCCCCCCCCCCCCC (n.95-48_95-47insCCCCCCCCCCCCCCCC) c.687-8082_687-8081insCCCCCCCCCCCCCCCC (n.687-8082_687-8081insCCCCCCCCCCCCCCCC) c.1297-48_1297-47insCCCCCCCCCCCCCCCC (n.1297-48_1297-47insCCCCCCCCCCCCCCCC) n.2534-48_2534-47insCCCCCCCCCCCCCCCC n.995-2585_995-2584insCCCCCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCCCCC | CA2692370250 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCCCCC (n.1309-48_1309-47insCCCCCCCCCCCCCCCCCC) c.1216-48_1216-47insCCCCCCCCCCCCCCCCCC (n.1216-48_1216-47insCCCCCCCCCCCCCCCCCC) c.565-48_565-47insCCCCCCCCCCCCCCCCCC (n.565-48_565-47insCCCCCCCCCCCCCCCCCC) c.*113-48_*113-47insCCCCCCCCCCCCCCCCCC (n.*113-48_*113-47insCCCCCCCCCCCCCCCCCC) n.974-2585_974-2584insCCCCCCCCCCCCCCCCCC c.*593-48_*593-47insCCCCCCCCCCCCCCCCCC (n.*593-48_*593-47insCCCCCCCCCCCCCCCCCC) n.993-2585_993-2584insCCCCCCCCCCCCCCCCCC c.919-48_919-47insCCCCCCCCCCCCCCCCCC (n.919-48_919-47insCCCCCCCCCCCCCCCCCC) c.325-48_325-47insCCCCCCCCCCCCCCCCCC (n.325-48_325-47insCCCCCCCCCCCCCCCCCC) c.319-48_319-47insCCCCCCCCCCCCCCCCCC (n.319-48_319-47insCCCCCCCCCCCCCCCCCC) c.-27-48_-27-47insCCCCCCCCCCCCCCCCCC (n.-27-48_-27-47insCCCCCCCCCCCCCCCCCC) c.95-48_95-47insCCCCCCCCCCCCCCCCCC (n.95-48_95-47insCCCCCCCCCCCCCCCCCC) c.687-8082_687-8081insCCCCCCCCCCCCCCCCCC (n.687-8082_687-8081insCCCCCCCCCCCCCCCCCC) c.1297-48_1297-47insCCCCCCCCCCCCCCCCCC (n.1297-48_1297-47insCCCCCCCCCCCCCCCCCC) n.2534-48_2534-47insCCCCCCCCCCCCCCCCCC n.995-2585_995-2584insCCCCCCCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCCCCCC | CA2692370302 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCCCCCC (n.1309-48_1309-47insCCCCCCCCCCCCCCCCCCC) c.1216-48_1216-47insCCCCCCCCCCCCCCCCCCC (n.1216-48_1216-47insCCCCCCCCCCCCCCCCCCC) c.565-48_565-47insCCCCCCCCCCCCCCCCCCC (n.565-48_565-47insCCCCCCCCCCCCCCCCCCC) c.*113-48_*113-47insCCCCCCCCCCCCCCCCCCC (n.*113-48_*113-47insCCCCCCCCCCCCCCCCCCC) n.974-2585_974-2584insCCCCCCCCCCCCCCCCCCC c.*593-48_*593-47insCCCCCCCCCCCCCCCCCCC (n.*593-48_*593-47insCCCCCCCCCCCCCCCCCCC) n.993-2585_993-2584insCCCCCCCCCCCCCCCCCCC c.919-48_919-47insCCCCCCCCCCCCCCCCCCC (n.919-48_919-47insCCCCCCCCCCCCCCCCCCC) c.325-48_325-47insCCCCCCCCCCCCCCCCCCC (n.325-48_325-47insCCCCCCCCCCCCCCCCCCC) c.319-48_319-47insCCCCCCCCCCCCCCCCCCC (n.319-48_319-47insCCCCCCCCCCCCCCCCCCC) c.-27-48_-27-47insCCCCCCCCCCCCCCCCCCC (n.-27-48_-27-47insCCCCCCCCCCCCCCCCCCC) c.95-48_95-47insCCCCCCCCCCCCCCCCCCC (n.95-48_95-47insCCCCCCCCCCCCCCCCCCC) c.687-8082_687-8081insCCCCCCCCCCCCCCCCCCC (n.687-8082_687-8081insCCCCCCCCCCCCCCCCCCC) c.1297-48_1297-47insCCCCCCCCCCCCCCCCCCC (n.1297-48_1297-47insCCCCCCCCCCCCCCCCCCC) n.2534-48_2534-47insCCCCCCCCCCCCCCCCCCC n.995-2585_995-2584insCCCCCCCCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCCCCCCCC | CA2692370296 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCC (n.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCC) c.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCC (n.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCC) c.565-48_565-47insCCCCCCCCCCCCCCCCCCCCC (n.565-48_565-47insCCCCCCCCCCCCCCCCCCCCC) c.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCC (n.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCC) n.974-2585_974-2584insCCCCCCCCCCCCCCCCCCCCC c.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCC (n.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCC) n.993-2585_993-2584insCCCCCCCCCCCCCCCCCCCCC c.919-48_919-47insCCCCCCCCCCCCCCCCCCCCC (n.919-48_919-47insCCCCCCCCCCCCCCCCCCCCC) c.325-48_325-47insCCCCCCCCCCCCCCCCCCCCC (n.325-48_325-47insCCCCCCCCCCCCCCCCCCCCC) c.319-48_319-47insCCCCCCCCCCCCCCCCCCCCC (n.319-48_319-47insCCCCCCCCCCCCCCCCCCCCC) c.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCC (n.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCC) c.95-48_95-47insCCCCCCCCCCCCCCCCCCCCC (n.95-48_95-47insCCCCCCCCCCCCCCCCCCCCC) c.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCC (n.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCC) c.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCC (n.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCC) n.2534-48_2534-47insCCCCCCCCCCCCCCCCCCCCC n.995-2585_995-2584insCCCCCCCCCCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCCCCCCCCC | CA2692370285 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCC (n.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCC) c.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCC (n.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCC) c.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCC (n.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCC) c.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCC (n.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCC) n.974-2585_974-2584insCCCCCCCCCCCCCCCCCCCCCC c.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCC (n.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCC) n.993-2585_993-2584insCCCCCCCCCCCCCCCCCCCCCC c.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCC (n.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCC) c.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCC (n.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCC) c.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCC (n.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCC) c.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCC (n.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCC) c.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCC (n.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCC) c.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCC (n.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCC) c.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCC (n.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCC) n.2534-48_2534-47insCCCCCCCCCCCCCCCCCCCCCC n.995-2585_995-2584insCCCCCCCCCCCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCTCCCCCCCCCCCCCC | CA2692370168 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCTCCCCCCCCCCCCCC (n.1309-48_1309-47insCCCCCCCTCCCCCCCCCCCCCC) c.1216-48_1216-47insCCCCCCCTCCCCCCCCCCCCCC (n.1216-48_1216-47insCCCCCCCTCCCCCCCCCCCCCC) c.565-48_565-47insCCCCCCCTCCCCCCCCCCCCCC (n.565-48_565-47insCCCCCCCTCCCCCCCCCCCCCC) c.*113-48_*113-47insCCCCCCCTCCCCCCCCCCCCCC (n.*113-48_*113-47insCCCCCCCTCCCCCCCCCCCCCC) n.974-2585_974-2584insCCCCCCCTCCCCCCCCCCCCCC c.*593-48_*593-47insCCCCCCCTCCCCCCCCCCCCCC (n.*593-48_*593-47insCCCCCCCTCCCCCCCCCCCCCC) n.993-2585_993-2584insCCCCCCCTCCCCCCCCCCCCCC c.919-48_919-47insCCCCCCCTCCCCCCCCCCCCCC (n.919-48_919-47insCCCCCCCTCCCCCCCCCCCCCC) c.325-48_325-47insCCCCCCCTCCCCCCCCCCCCCC (n.325-48_325-47insCCCCCCCTCCCCCCCCCCCCCC) c.319-48_319-47insCCCCCCCTCCCCCCCCCCCCCC (n.319-48_319-47insCCCCCCCTCCCCCCCCCCCCCC) c.-27-48_-27-47insCCCCCCCTCCCCCCCCCCCCCC (n.-27-48_-27-47insCCCCCCCTCCCCCCCCCCCCCC) c.95-48_95-47insCCCCCCCTCCCCCCCCCCCCCC (n.95-48_95-47insCCCCCCCTCCCCCCCCCCCCCC) c.687-8082_687-8081insCCCCCCCTCCCCCCCCCCCCCC (n.687-8082_687-8081insCCCCCCCTCCCCCCCCCCCCCC) c.1297-48_1297-47insCCCCCCCTCCCCCCCCCCCCCC (n.1297-48_1297-47insCCCCCCCTCCCCCCCCCCCCCC) n.2534-48_2534-47insCCCCCCCTCCCCCCCCCCCCCC n.995-2585_995-2584insCCCCCCCTCCCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCCCCCCCCCC | CA2692370281 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCC (n.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCC) c.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCC (n.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCC) c.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCC (n.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCC) c.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCC (n.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCC) n.974-2585_974-2584insCCCCCCCCCCCCCCCCCCCCCCC c.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCC (n.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCC) n.993-2585_993-2584insCCCCCCCCCCCCCCCCCCCCCCC c.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCC (n.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCC) c.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCC (n.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCC) c.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCC (n.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCC) c.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCC (n.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCC) c.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCC (n.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCC) c.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCC (n.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCC) c.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCC (n.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCC) n.2534-48_2534-47insCCCCCCCCCCCCCCCCCCCCCCC n.995-2585_995-2584insCCCCCCCCCCCCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCCCCCCTCCCC | CA2692370255 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCTCCCC (n.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCTCCCC) c.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCTCCCC (n.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCTCCCC) c.565-48_565-47insCCCCCCCCCCCCCCCCCCCTCCCC (n.565-48_565-47insCCCCCCCCCCCCCCCCCCCTCCCC) c.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCTCCCC (n.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCTCCCC) n.974-2585_974-2584insCCCCCCCCCCCCCCCCCCCTCCCC c.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCTCCCC (n.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCTCCCC) n.993-2585_993-2584insCCCCCCCCCCCCCCCCCCCTCCCC c.919-48_919-47insCCCCCCCCCCCCCCCCCCCTCCCC (n.919-48_919-47insCCCCCCCCCCCCCCCCCCCTCCCC) c.325-48_325-47insCCCCCCCCCCCCCCCCCCCTCCCC (n.325-48_325-47insCCCCCCCCCCCCCCCCCCCTCCCC) c.319-48_319-47insCCCCCCCCCCCCCCCCCCCTCCCC (n.319-48_319-47insCCCCCCCCCCCCCCCCCCCTCCCC) c.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCTCCCC (n.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCTCCCC) c.95-48_95-47insCCCCCCCCCCCCCCCCCCCTCCCC (n.95-48_95-47insCCCCCCCCCCCCCCCCCCCTCCCC) c.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCTCCCC (n.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCTCCCC) c.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCTCCCC (n.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCTCCCC) n.2534-48_2534-47insCCCCCCCCCCCCCCCCCCCTCCCC n.995-2585_995-2584insCCCCCCCCCCCCCCCCCCCTCCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCCCCCCCCCCC | CA2692370301 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCCC (n.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCCC) c.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCCC (n.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCCC) c.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCCC (n.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCCC) c.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCCC (n.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCCC) n.974-2585_974-2584insCCCCCCCCCCCCCCCCCCCCCCCC c.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCCC (n.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCCC) n.993-2585_993-2584insCCCCCCCCCCCCCCCCCCCCCCCC c.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCCC (n.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCCC) c.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCCC (n.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCCC) c.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCCC (n.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCCC) c.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCCC (n.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCCC) c.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCCC (n.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCCC) c.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCCC (n.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCCC) c.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCCC (n.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCCC) n.2534-48_2534-47insCCCCCCCCCCCCCCCCCCCCCCCC n.995-2585_995-2584insCCCCCCCCCCCCCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCCCCCCCCCCCC | CA2692370278 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCCCC (n.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCCCC) c.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCCCC (n.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCCCC) c.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCCCC (n.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCCCC) c.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCCCC (n.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCCCC) n.974-2585_974-2584insCCCCCCCCCCCCCCCCCCCCCCCCC c.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCCCC (n.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCCCC) n.993-2585_993-2584insCCCCCCCCCCCCCCCCCCCCCCCCC c.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCCCC (n.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCCCC) c.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCCCC (n.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCCCC) c.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCCCC (n.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCCCC) c.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCCCC (n.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCCCC) c.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCCCC (n.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCCCC) c.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCCCC (n.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCCCC) c.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCCCC (n.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCCCC) n.2534-48_2534-47insCCCCCCCCCCCCCCCCCCCCCCCCC n.995-2585_995-2584insCCCCCCCCCCCCCCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2692370274 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCCCCCC) n.974-2585_974-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCC c.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCCCCCC) n.993-2585_993-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCC c.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCCCCCC) n.2534-48_2534-47insCCCCCCCCCCCCCCCCCCCCCCCCCCC n.995-2585_995-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2692370272 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) n.974-2585_974-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC c.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) n.993-2585_993-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC c.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) n.2534-48_2534-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC n.995-2585_995-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC | CA2786169558 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC (n.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC) c.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC (n.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC) c.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC (n.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC) c.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC (n.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC) n.974-2585_974-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC c.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC (n.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC) n.993-2585_993-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC c.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC (n.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC) c.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC (n.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC) c.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC (n.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC) c.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC (n.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC) c.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC (n.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC) c.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC (n.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC) c.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC (n.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC) n.2534-48_2534-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC n.995-2585_995-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC | |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC | CA2692370263 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC (n.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC) c.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC (n.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC) c.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC (n.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC) c.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC (n.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC) n.974-2585_974-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC c.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC (n.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC) n.993-2585_993-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC c.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC (n.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC) c.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC (n.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC) c.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC (n.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC) c.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC (n.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC) c.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC (n.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC) c.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC (n.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC) c.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC (n.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC) n.2534-48_2534-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC n.995-2585_995-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC | CA2786169560 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC (n.1309-48_1309-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC) c.1216-48_1216-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC (n.1216-48_1216-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC) c.565-48_565-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC (n.565-48_565-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC) c.*113-48_*113-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC (n.*113-48_*113-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC) n.974-2585_974-2584insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC c.*593-48_*593-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC (n.*593-48_*593-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC) n.993-2585_993-2584insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC c.919-48_919-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC (n.919-48_919-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC) c.325-48_325-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC (n.325-48_325-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC) c.319-48_319-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC (n.319-48_319-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC) c.-27-48_-27-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC (n.-27-48_-27-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC) c.95-48_95-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC (n.95-48_95-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC) c.687-8082_687-8081insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC (n.687-8082_687-8081insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC) c.1297-48_1297-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC (n.1297-48_1297-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC) n.2534-48_2534-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC n.995-2585_995-2584insCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCCCC | |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC | CA2692370283 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC (n.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC) c.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC (n.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC) c.565-48_565-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC (n.565-48_565-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC) c.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC (n.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC) n.974-2585_974-2584insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC c.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC (n.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC) n.993-2585_993-2584insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC c.919-48_919-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC (n.919-48_919-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC) c.325-48_325-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC (n.325-48_325-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC) c.319-48_319-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC (n.319-48_319-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC) c.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC (n.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC) c.95-48_95-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC (n.95-48_95-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC) c.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC (n.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC) c.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC (n.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC) n.2534-48_2534-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC n.995-2585_995-2584insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2692370267 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) n.974-2585_974-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC c.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) n.993-2585_993-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC c.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) n.2534-48_2534-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC n.995-2585_995-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC | CA2692370289 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC (n.1309-48_1309-47insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC) c.1216-48_1216-47insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC (n.1216-48_1216-47insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC) c.565-48_565-47insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC (n.565-48_565-47insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC) c.*113-48_*113-47insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC (n.*113-48_*113-47insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC) n.974-2585_974-2584insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC c.*593-48_*593-47insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC (n.*593-48_*593-47insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC) n.993-2585_993-2584insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC c.919-48_919-47insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC (n.919-48_919-47insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC) c.325-48_325-47insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC (n.325-48_325-47insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC) c.319-48_319-47insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC (n.319-48_319-47insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC) c.-27-48_-27-47insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC (n.-27-48_-27-47insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC) c.95-48_95-47insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC (n.95-48_95-47insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC) c.687-8082_687-8081insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC (n.687-8082_687-8081insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC) c.1297-48_1297-47insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC (n.1297-48_1297-47insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC) n.2534-48_2534-47insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC n.995-2585_995-2584insCCCCCCCCCCCCCCCCCCATCCCCCCCCCCTCCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC | CA2786169559 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC (n.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC) c.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC (n.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC) c.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC (n.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC) c.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC (n.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC) n.974-2585_974-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC c.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC (n.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC) n.993-2585_993-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC c.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC (n.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC) c.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC (n.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC) c.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC (n.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC) c.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC (n.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC) c.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC (n.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC) c.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC (n.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC) c.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC (n.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC) n.2534-48_2534-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC n.995-2585_995-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCC | |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC | CA2692370258 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC (n.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC) c.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC (n.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC) c.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC (n.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC) c.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC (n.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC) n.974-2585_974-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC c.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC (n.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC) n.993-2585_993-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC c.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC (n.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC) c.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC (n.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC) c.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC (n.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC) c.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC (n.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC) c.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC (n.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC) c.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC (n.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC) c.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC (n.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC) n.2534-48_2534-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC n.995-2585_995-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2517392203 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) n.974-2585_974-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC c.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) n.993-2585_993-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC c.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) n.2534-48_2534-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC n.995-2585_995-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC | CA918570522 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC (n.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC) c.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC (n.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC) c.565-48_565-47insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC (n.565-48_565-47insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC) c.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC (n.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC) n.974-2585_974-2584insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC c.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC (n.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC) n.993-2585_993-2584insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC c.919-48_919-47insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC (n.919-48_919-47insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC) c.325-48_325-47insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC (n.325-48_325-47insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC) c.319-48_319-47insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC (n.319-48_319-47insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC) c.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC (n.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC) c.95-48_95-47insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC (n.95-48_95-47insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC) c.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC (n.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC) c.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC (n.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC) n.2534-48_2534-47insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC n.995-2585_995-2584insCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCCCCCCC | dbSNP |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC | CA2692370086 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC (n.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC) c.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC (n.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC) c.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC (n.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC) c.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC (n.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC) n.974-2585_974-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC c.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC (n.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC) n.993-2585_993-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC c.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC (n.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC) c.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC (n.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC) c.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC (n.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC) c.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC (n.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC) c.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC (n.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC) c.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC (n.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC) c.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC (n.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC) n.2534-48_2534-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC n.995-2585_995-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTTCCCCCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC | CA2692370265 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC (n.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC) c.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC (n.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC) c.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC (n.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC) c.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC (n.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC) n.974-2585_974-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC c.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC (n.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC) n.993-2585_993-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC c.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC (n.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC) c.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC (n.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC) c.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC (n.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC) c.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC (n.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC) c.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC (n.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC) c.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC (n.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC) c.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC (n.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC) n.2534-48_2534-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC n.995-2585_995-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC | CA2692370293 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC (n.1309-48_1309-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC) c.1216-48_1216-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC (n.1216-48_1216-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC) c.565-48_565-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC (n.565-48_565-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC) c.*113-48_*113-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC (n.*113-48_*113-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC) n.974-2585_974-2584insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC c.*593-48_*593-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC (n.*593-48_*593-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC) n.993-2585_993-2584insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC c.919-48_919-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC (n.919-48_919-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC) c.325-48_325-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC (n.325-48_325-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC) c.319-48_319-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC (n.319-48_319-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC) c.-27-48_-27-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC (n.-27-48_-27-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC) c.95-48_95-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC (n.95-48_95-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC) c.687-8082_687-8081insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC (n.687-8082_687-8081insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC) c.1297-48_1297-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC (n.1297-48_1297-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC) n.2534-48_2534-47insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC n.995-2585_995-2584insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCC | gnomAD v4 |
| 9 | g.133436781dup | CA918570519 | ADAMTS13 | c.1309-48dup (n.1309-48dup) c.1216-48dup (n.1216-48dup) c.565-48dup (n.565-48dup) c.*113-48dup (n.*113-48dup) n.974-2585dup c.*593-48dup (n.*593-48dup) n.993-2585dup c.919-48dup (n.919-48dup) c.325-48dup (n.325-48dup) c.319-48dup (n.319-48dup) c.-27-48dup (n.-27-48dup) c.95-48dup (n.95-48dup) c.687-8082dup (n.687-8082dup) c.1297-48dup (n.1297-48dup) n.2534-48dup n.995-2585dup | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436780_133436781dup | CA2579500360 | ADAMTS13 | c.1309-49_1309-48dup (n.1309-49_1309-48dup) c.1216-49_1216-48dup (n.1216-49_1216-48dup) c.565-49_565-48dup (n.565-49_565-48dup) c.*113-49_*113-48dup (n.*113-49_*113-48dup) n.974-2586_974-2585dup c.*593-49_*593-48dup (n.*593-49_*593-48dup) n.993-2586_993-2585dup c.919-49_919-48dup (n.919-49_919-48dup) c.325-49_325-48dup (n.325-49_325-48dup) c.319-49_319-48dup (n.319-49_319-48dup) c.-27-49_-27-48dup (n.-27-49_-27-48dup) c.95-49_95-48dup (n.95-49_95-48dup) c.687-8083_687-8082dup (n.687-8083_687-8082dup) c.1297-49_1297-48dup (n.1297-49_1297-48dup) n.2534-49_2534-48dup n.995-2586_995-2585dup | gnomAD v4 |
| 9 | g.133436779_133436781dup | CA2692370226 | ADAMTS13 | c.1309-50_1309-48dup (n.1309-50_1309-48dup) c.1216-50_1216-48dup (n.1216-50_1216-48dup) c.565-50_565-48dup (n.565-50_565-48dup) c.*113-50_*113-48dup (n.*113-50_*113-48dup) n.974-2587_974-2585dup c.*593-50_*593-48dup (n.*593-50_*593-48dup) n.993-2587_993-2585dup c.919-50_919-48dup (n.919-50_919-48dup) c.325-50_325-48dup (n.325-50_325-48dup) c.319-50_319-48dup (n.319-50_319-48dup) c.-27-50_-27-48dup (n.-27-50_-27-48dup) c.95-50_95-48dup (n.95-50_95-48dup) c.687-8084_687-8082dup (n.687-8084_687-8082dup) c.1297-50_1297-48dup (n.1297-50_1297-48dup) n.2534-50_2534-48dup n.995-2587_995-2585dup | gnomAD v4 |
| 9 | g.133436781del | CA2692370104 | ADAMTS13 | c.1309-48del (n.1309-48del) c.1216-48del (n.1216-48del) c.565-48del (n.565-48del) c.*113-48del (n.*113-48del) n.974-2585del c.*593-48del (n.*593-48del) n.993-2585del c.919-48del (n.919-48del) c.325-48del (n.325-48del) c.319-48del (n.319-48del) c.-27-48del (n.-27-48del) c.95-48del (n.95-48del) c.687-8082del (n.687-8082del) c.1297-48del (n.1297-48del) n.2534-48del n.995-2585del | gnomAD v4 |
| 9 | g.133436780_133436781del | CA2579500362 | ADAMTS13 | c.1309-49_1309-48del (n.1309-49_1309-48del) c.1216-49_1216-48del (n.1216-49_1216-48del) c.565-49_565-48del (n.565-49_565-48del) c.*113-49_*113-48del (n.*113-49_*113-48del) n.974-2586_974-2585del c.*593-49_*593-48del (n.*593-49_*593-48del) n.993-2586_993-2585del c.919-49_919-48del (n.919-49_919-48del) c.325-49_325-48del (n.325-49_325-48del) c.319-49_319-48del (n.319-49_319-48del) c.-27-49_-27-48del (n.-27-49_-27-48del) c.95-49_95-48del (n.95-49_95-48del) c.687-8083_687-8082del (n.687-8083_687-8082del) c.1297-49_1297-48del (n.1297-49_1297-48del) n.2534-49_2534-48del n.995-2586_995-2585del | gnomAD v4 |
| 9 | g.133436787_133436793dup | CA860755348 | ADAMTS13 | c.1309-42_1309-36dup (n.1309-42_1309-36dup) c.1216-42_1216-36dup (n.1216-42_1216-36dup) c.565-42_565-36dup (n.565-42_565-36dup) c.*113-42_*113-36dup (n.*113-42_*113-36dup) n.974-2579_974-2573dup c.*593-42_*593-36dup (n.*593-42_*593-36dup) n.993-2579_993-2573dup c.919-42_919-36dup (n.919-42_919-36dup) c.325-42_325-36dup (n.325-42_325-36dup) c.319-42_319-36dup (n.319-42_319-36dup) c.-27-42_-27-36dup (n.-27-42_-27-36dup) c.95-42_95-36dup (n.95-42_95-36dup) c.687-8076_687-8070dup (n.687-8076_687-8070dup) c.1297-42_1297-36dup (n.1297-42_1297-36dup) n.2534-42_2534-36dup n.995-2579_995-2573dup | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436787_133436793del | CA1129743471 | ADAMTS13 | c.1309-42_1309-36del (n.1309-42_1309-36del) c.1216-42_1216-36del (n.1216-42_1216-36del) c.565-42_565-36del (n.565-42_565-36del) c.*113-42_*113-36del (n.*113-42_*113-36del) n.974-2579_974-2573del c.*593-42_*593-36del (n.*593-42_*593-36del) n.993-2579_993-2573del c.919-42_919-36del (n.919-42_919-36del) c.325-42_325-36del (n.325-42_325-36del) c.319-42_319-36del (n.319-42_319-36del) c.-27-42_-27-36del (n.-27-42_-27-36del) c.95-42_95-36del (n.95-42_95-36del) c.687-8076_687-8070del (n.687-8076_687-8070del) c.1297-42_1297-36del (n.1297-42_1297-36del) n.2534-42_2534-36del n.995-2579_995-2573del | gnomAD v3 gnomAD v4 |
| 9 | g.133436779_133436780insA | CA2692370365 | ADAMTS13 | c.1309-50_1309-49insA (n.1309-50_1309-49insA) c.1216-50_1216-49insA (n.1216-50_1216-49insA) c.565-50_565-49insA (n.565-50_565-49insA) c.*113-50_*113-49insA (n.*113-50_*113-49insA) n.974-2587_974-2586insA c.*593-50_*593-49insA (n.*593-50_*593-49insA) n.993-2587_993-2586insA c.919-50_919-49insA (n.919-50_919-49insA) c.325-50_325-49insA (n.325-50_325-49insA) c.319-50_319-49insA (n.319-50_319-49insA) c.-27-50_-27-49insA (n.-27-50_-27-49insA) c.95-50_95-49insA (n.95-50_95-49insA) c.687-8084_687-8083insA (n.687-8084_687-8083insA) c.1297-50_1297-49insA (n.1297-50_1297-49insA) n.2534-50_2534-49insA n.995-2587_995-2586insA | gnomAD v4 |
| 9 | g.133436779_133436780insG | CA2692370370 | ADAMTS13 | c.1309-50_1309-49insG (n.1309-50_1309-49insG) c.1216-50_1216-49insG (n.1216-50_1216-49insG) c.565-50_565-49insG (n.565-50_565-49insG) c.*113-50_*113-49insG (n.*113-50_*113-49insG) n.974-2587_974-2586insG c.*593-50_*593-49insG (n.*593-50_*593-49insG) n.993-2587_993-2586insG c.919-50_919-49insG (n.919-50_919-49insG) c.325-50_325-49insG (n.325-50_325-49insG) c.319-50_319-49insG (n.319-50_319-49insG) c.-27-50_-27-49insG (n.-27-50_-27-49insG) c.95-50_95-49insG (n.95-50_95-49insG) c.687-8084_687-8083insG (n.687-8084_687-8083insG) c.1297-50_1297-49insG (n.1297-50_1297-49insG) n.2534-50_2534-49insG n.995-2587_995-2586insG | gnomAD v4 |
| 9 | g.133436779_133436780insGG | CA2692370359 | ADAMTS13 | c.1309-50_1309-49insGG (n.1309-50_1309-49insGG) c.1216-50_1216-49insGG (n.1216-50_1216-49insGG) c.565-50_565-49insGG (n.565-50_565-49insGG) c.*113-50_*113-49insGG (n.*113-50_*113-49insGG) n.974-2587_974-2586insGG c.*593-50_*593-49insGG (n.*593-50_*593-49insGG) n.993-2587_993-2586insGG c.919-50_919-49insGG (n.919-50_919-49insGG) c.325-50_325-49insGG (n.325-50_325-49insGG) c.319-50_319-49insGG (n.319-50_319-49insGG) c.-27-50_-27-49insGG (n.-27-50_-27-49insGG) c.95-50_95-49insGG (n.95-50_95-49insGG) c.687-8084_687-8083insGG (n.687-8084_687-8083insGG) c.1297-50_1297-49insGG (n.1297-50_1297-49insGG) n.2534-50_2534-49insGG n.995-2587_995-2586insGG | gnomAD v4 |
| 9 | g.133436779_133436780insGGG | CA2692370375 | ADAMTS13 | c.1309-50_1309-49insGGG (n.1309-50_1309-49insGGG) c.1216-50_1216-49insGGG (n.1216-50_1216-49insGGG) c.565-50_565-49insGGG (n.565-50_565-49insGGG) c.*113-50_*113-49insGGG (n.*113-50_*113-49insGGG) n.974-2587_974-2586insGGG c.*593-50_*593-49insGGG (n.*593-50_*593-49insGGG) n.993-2587_993-2586insGGG c.919-50_919-49insGGG (n.919-50_919-49insGGG) c.325-50_325-49insGGG (n.325-50_325-49insGGG) c.319-50_319-49insGGG (n.319-50_319-49insGGG) c.-27-50_-27-49insGGG (n.-27-50_-27-49insGGG) c.95-50_95-49insGGG (n.95-50_95-49insGGG) c.687-8084_687-8083insGGG (n.687-8084_687-8083insGGG) c.1297-50_1297-49insGGG (n.1297-50_1297-49insGGG) n.2534-50_2534-49insGGG n.995-2587_995-2586insGGG | gnomAD v4 |
| 9 | g.133436779_133436780insTGG | CA2692370348 | ADAMTS13 | c.1309-50_1309-49insTGG (n.1309-50_1309-49insTGG) c.1216-50_1216-49insTGG (n.1216-50_1216-49insTGG) c.565-50_565-49insTGG (n.565-50_565-49insTGG) c.*113-50_*113-49insTGG (n.*113-50_*113-49insTGG) n.974-2587_974-2586insTGG c.*593-50_*593-49insTGG (n.*593-50_*593-49insTGG) n.993-2587_993-2586insTGG c.919-50_919-49insTGG (n.919-50_919-49insTGG) c.325-50_325-49insTGG (n.325-50_325-49insTGG) c.319-50_319-49insTGG (n.319-50_319-49insTGG) c.-27-50_-27-49insTGG (n.-27-50_-27-49insTGG) c.95-50_95-49insTGG (n.95-50_95-49insTGG) c.687-8084_687-8083insTGG (n.687-8084_687-8083insTGG) c.1297-50_1297-49insTGG (n.1297-50_1297-49insTGG) n.2534-50_2534-49insTGG n.995-2587_995-2586insTGG | gnomAD v4 |
| 9 | g.133436779_133436780insGGGGG | CA2692370374 | ADAMTS13 | c.1309-50_1309-49insGGGGG (n.1309-50_1309-49insGGGGG) c.1216-50_1216-49insGGGGG (n.1216-50_1216-49insGGGGG) c.565-50_565-49insGGGGG (n.565-50_565-49insGGGGG) c.*113-50_*113-49insGGGGG (n.*113-50_*113-49insGGGGG) n.974-2587_974-2586insGGGGG c.*593-50_*593-49insGGGGG (n.*593-50_*593-49insGGGGG) n.993-2587_993-2586insGGGGG c.919-50_919-49insGGGGG (n.919-50_919-49insGGGGG) c.325-50_325-49insGGGGG (n.325-50_325-49insGGGGG) c.319-50_319-49insGGGGG (n.319-50_319-49insGGGGG) c.-27-50_-27-49insGGGGG (n.-27-50_-27-49insGGGGG) c.95-50_95-49insGGGGG (n.95-50_95-49insGGGGG) c.687-8084_687-8083insGGGGG (n.687-8084_687-8083insGGGGG) c.1297-50_1297-49insGGGGG (n.1297-50_1297-49insGGGGG) n.2534-50_2534-49insGGGGG n.995-2587_995-2586insGGGGG | gnomAD v4 |
| 9 | g.133436779_133436780insGGGGGG | CA2692370363 | ADAMTS13 | c.1309-50_1309-49insGGGGGG (n.1309-50_1309-49insGGGGGG) c.1216-50_1216-49insGGGGGG (n.1216-50_1216-49insGGGGGG) c.565-50_565-49insGGGGGG (n.565-50_565-49insGGGGGG) c.*113-50_*113-49insGGGGGG (n.*113-50_*113-49insGGGGGG) n.974-2587_974-2586insGGGGGG c.*593-50_*593-49insGGGGGG (n.*593-50_*593-49insGGGGGG) n.993-2587_993-2586insGGGGGG c.919-50_919-49insGGGGGG (n.919-50_919-49insGGGGGG) c.325-50_325-49insGGGGGG (n.325-50_325-49insGGGGGG) c.319-50_319-49insGGGGGG (n.319-50_319-49insGGGGGG) c.-27-50_-27-49insGGGGGG (n.-27-50_-27-49insGGGGGG) c.95-50_95-49insGGGGGG (n.95-50_95-49insGGGGGG) c.687-8084_687-8083insGGGGGG (n.687-8084_687-8083insGGGGGG) c.1297-50_1297-49insGGGGGG (n.1297-50_1297-49insGGGGGG) n.2534-50_2534-49insGGGGGG n.995-2587_995-2586insGGGGGG | gnomAD v4 |
| 9 | g.133436779_133436780insGGGGGGG | CA2692370364 | ADAMTS13 | c.1309-50_1309-49insGGGGGGG (n.1309-50_1309-49insGGGGGGG) c.1216-50_1216-49insGGGGGGG (n.1216-50_1216-49insGGGGGGG) c.565-50_565-49insGGGGGGG (n.565-50_565-49insGGGGGGG) c.*113-50_*113-49insGGGGGGG (n.*113-50_*113-49insGGGGGGG) n.974-2587_974-2586insGGGGGGG c.*593-50_*593-49insGGGGGGG (n.*593-50_*593-49insGGGGGGG) n.993-2587_993-2586insGGGGGGG c.919-50_919-49insGGGGGGG (n.919-50_919-49insGGGGGGG) c.325-50_325-49insGGGGGGG (n.325-50_325-49insGGGGGGG) c.319-50_319-49insGGGGGGG (n.319-50_319-49insGGGGGGG) c.-27-50_-27-49insGGGGGGG (n.-27-50_-27-49insGGGGGGG) c.95-50_95-49insGGGGGGG (n.95-50_95-49insGGGGGGG) c.687-8084_687-8083insGGGGGGG (n.687-8084_687-8083insGGGGGGG) c.1297-50_1297-49insGGGGGGG (n.1297-50_1297-49insGGGGGGG) n.2534-50_2534-49insGGGGGGG n.995-2587_995-2586insGGGGGGG | gnomAD v4 |
| 9 | g.133436779_133436780insGGGGGGGG | CA2692370342 | ADAMTS13 | c.1309-50_1309-49insGGGGGGGG (n.1309-50_1309-49insGGGGGGGG) c.1216-50_1216-49insGGGGGGGG (n.1216-50_1216-49insGGGGGGGG) c.565-50_565-49insGGGGGGGG (n.565-50_565-49insGGGGGGGG) c.*113-50_*113-49insGGGGGGGG (n.*113-50_*113-49insGGGGGGGG) n.974-2587_974-2586insGGGGGGGG c.*593-50_*593-49insGGGGGGGG (n.*593-50_*593-49insGGGGGGGG) n.993-2587_993-2586insGGGGGGGG c.919-50_919-49insGGGGGGGG (n.919-50_919-49insGGGGGGGG) c.325-50_325-49insGGGGGGGG (n.325-50_325-49insGGGGGGGG) c.319-50_319-49insGGGGGGGG (n.319-50_319-49insGGGGGGGG) c.-27-50_-27-49insGGGGGGGG (n.-27-50_-27-49insGGGGGGGG) c.95-50_95-49insGGGGGGGG (n.95-50_95-49insGGGGGGGG) c.687-8084_687-8083insGGGGGGGG (n.687-8084_687-8083insGGGGGGGG) c.1297-50_1297-49insGGGGGGGG (n.1297-50_1297-49insGGGGGGGG) n.2534-50_2534-49insGGGGGGGG n.995-2587_995-2586insGGGGGGGG | gnomAD v4 |
| 9 | g.133436779_133436780insGGGGGGGGG | CA2692370346 | ADAMTS13 | c.1309-50_1309-49insGGGGGGGGG (n.1309-50_1309-49insGGGGGGGGG) c.1216-50_1216-49insGGGGGGGGG (n.1216-50_1216-49insGGGGGGGGG) c.565-50_565-49insGGGGGGGGG (n.565-50_565-49insGGGGGGGGG) c.*113-50_*113-49insGGGGGGGGG (n.*113-50_*113-49insGGGGGGGGG) n.974-2587_974-2586insGGGGGGGGG c.*593-50_*593-49insGGGGGGGGG (n.*593-50_*593-49insGGGGGGGGG) n.993-2587_993-2586insGGGGGGGGG c.919-50_919-49insGGGGGGGGG (n.919-50_919-49insGGGGGGGGG) c.325-50_325-49insGGGGGGGGG (n.325-50_325-49insGGGGGGGGG) c.319-50_319-49insGGGGGGGGG (n.319-50_319-49insGGGGGGGGG) c.-27-50_-27-49insGGGGGGGGG (n.-27-50_-27-49insGGGGGGGGG) c.95-50_95-49insGGGGGGGGG (n.95-50_95-49insGGGGGGGGG) c.687-8084_687-8083insGGGGGGGGG (n.687-8084_687-8083insGGGGGGGGG) c.1297-50_1297-49insGGGGGGGGG (n.1297-50_1297-49insGGGGGGGGG) n.2534-50_2534-49insGGGGGGGGG n.995-2587_995-2586insGGGGGGGGG | gnomAD v4 |
| 9 | g.133436779_133436780insTGGGGGGGG | CA2692370351 | ADAMTS13 | c.1309-50_1309-49insTGGGGGGGG (n.1309-50_1309-49insTGGGGGGGG) c.1216-50_1216-49insTGGGGGGGG (n.1216-50_1216-49insTGGGGGGGG) c.565-50_565-49insTGGGGGGGG (n.565-50_565-49insTGGGGGGGG) c.*113-50_*113-49insTGGGGGGGG (n.*113-50_*113-49insTGGGGGGGG) n.974-2587_974-2586insTGGGGGGGG c.*593-50_*593-49insTGGGGGGGG (n.*593-50_*593-49insTGGGGGGGG) n.993-2587_993-2586insTGGGGGGGG c.919-50_919-49insTGGGGGGGG (n.919-50_919-49insTGGGGGGGG) c.325-50_325-49insTGGGGGGGG (n.325-50_325-49insTGGGGGGGG) c.319-50_319-49insTGGGGGGGG (n.319-50_319-49insTGGGGGGGG) c.-27-50_-27-49insTGGGGGGGG (n.-27-50_-27-49insTGGGGGGGG) c.95-50_95-49insTGGGGGGGG (n.95-50_95-49insTGGGGGGGG) c.687-8084_687-8083insTGGGGGGGG (n.687-8084_687-8083insTGGGGGGGG) c.1297-50_1297-49insTGGGGGGGG (n.1297-50_1297-49insTGGGGGGGG) n.2534-50_2534-49insTGGGGGGGG n.995-2587_995-2586insTGGGGGGGG | gnomAD v4 |
| 9 | g.133436780C>A | CA860755349 | ADAMTS13 | c.1309-49C>A (n.1309-49C>A) c.1216-49C>A (n.1216-49C>A) c.565-49C>A (n.565-49C>A) c.*113-49C>A (n.*113-49C>A) n.974-2586C>A c.*593-49C>A (n.*593-49C>A) n.993-2586C>A c.919-49C>A (n.919-49C>A) c.325-49C>A (n.325-49C>A) c.319-49C>A (n.319-49C>A) c.-27-49C>A (n.-27-49C>A) c.95-49C>A (n.95-49C>A) c.687-8083C>A (n.687-8083C>A) c.1297-49C>A (n.1297-49C>A) n.2534-49C>A n.995-2586C>A | dbSNP gnomAD v4 |
| 9 | g.133436780C= | CA1882673067 | ADAMTS13 | c.1309-49C= (n.1309-49C=) c.1216-49C= (n.1216-49C=) c.565-49C= (n.565-49C=) c.*113-49C= (n.*113-49C=) n.974-2586C= c.*593-49C= (n.*593-49C=) n.993-2586C= c.919-49C= (n.919-49C=) c.325-49C= (n.325-49C=) c.319-49C= (n.319-49C=) c.-27-49C= (n.-27-49C=) c.95-49C= (n.95-49C=) c.687-8083C= (n.687-8083C=) c.1297-49C= (n.1297-49C=) n.2534-49C= n.995-2586C= | |
| 9 | g.133436780C>G | CA2692370360 | ADAMTS13 | c.1309-49C>G (n.1309-49C>G) c.1216-49C>G (n.1216-49C>G) c.565-49C>G (n.565-49C>G) c.*113-49C>G (n.*113-49C>G) n.974-2586C>G c.*593-49C>G (n.*593-49C>G) n.993-2586C>G c.919-49C>G (n.919-49C>G) c.325-49C>G (n.325-49C>G) c.319-49C>G (n.319-49C>G) c.-27-49C>G (n.-27-49C>G) c.95-49C>G (n.95-49C>G) c.687-8083C>G (n.687-8083C>G) c.1297-49C>G (n.1297-49C>G) n.2534-49C>G n.995-2586C>G | gnomAD v4 |
| 9 | g.133436780C>T | CA2579500367 | ADAMTS13 | c.1309-49C>T (n.1309-49C>T) c.1216-49C>T (n.1216-49C>T) c.565-49C>T (n.565-49C>T) c.*113-49C>T (n.*113-49C>T) n.974-2586C>T c.*593-49C>T (n.*593-49C>T) n.993-2586C>T c.919-49C>T (n.919-49C>T) c.325-49C>T (n.325-49C>T) c.319-49C>T (n.319-49C>T) c.-27-49C>T (n.-27-49C>T) c.95-49C>T (n.95-49C>T) c.687-8083C>T (n.687-8083C>T) c.1297-49C>T (n.1297-49C>T) n.2534-49C>T n.995-2586C>T | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCCCCCCTCC | CA2692370371 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCTCC (n.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCTCC) c.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCTCC (n.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCTCC) c.565-48_565-47insCCCCCCCCCCCCCCCCCCCTCC (n.565-48_565-47insCCCCCCCCCCCCCCCCCCCTCC) c.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCTCC (n.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCTCC) n.974-2585_974-2584insCCCCCCCCCCCCCCCCCCCTCC c.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCTCC (n.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCTCC) n.993-2585_993-2584insCCCCCCCCCCCCCCCCCCCTCC c.919-48_919-47insCCCCCCCCCCCCCCCCCCCTCC (n.919-48_919-47insCCCCCCCCCCCCCCCCCCCTCC) c.325-48_325-47insCCCCCCCCCCCCCCCCCCCTCC (n.325-48_325-47insCCCCCCCCCCCCCCCCCCCTCC) c.319-48_319-47insCCCCCCCCCCCCCCCCCCCTCC (n.319-48_319-47insCCCCCCCCCCCCCCCCCCCTCC) c.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCTCC (n.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCTCC) c.95-48_95-47insCCCCCCCCCCCCCCCCCCCTCC (n.95-48_95-47insCCCCCCCCCCCCCCCCCCCTCC) c.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCTCC (n.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCTCC) c.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCTCC (n.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCTCC) n.2534-48_2534-47insCCCCCCCCCCCCCCCCCCCTCC n.995-2585_995-2584insCCCCCCCCCCCCCCCCCCCTCC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC | CA2692370369 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC (n.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC) c.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC (n.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC) c.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC (n.565-48_565-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC) c.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC (n.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC) n.974-2585_974-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC c.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC (n.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC) n.993-2585_993-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC c.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC (n.919-48_919-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC) c.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC (n.325-48_325-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC) c.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC (n.319-48_319-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC) c.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC (n.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC) c.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC (n.95-48_95-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC) c.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC (n.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC) c.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC (n.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC) n.2534-48_2534-47insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC n.995-2585_995-2584insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACC | gnomAD v4 |
| 9 | g.133436781_133436782insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC | CA2692370367 | ADAMTS13 | c.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC (n.1309-48_1309-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC) c.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC (n.1216-48_1216-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC) c.565-48_565-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC (n.565-48_565-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC) c.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC (n.*113-48_*113-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC) n.974-2585_974-2584insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC c.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC (n.*593-48_*593-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC) n.993-2585_993-2584insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC c.919-48_919-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC (n.919-48_919-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC) c.325-48_325-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC (n.325-48_325-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC) c.319-48_319-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC (n.319-48_319-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC) c.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC (n.-27-48_-27-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC) c.95-48_95-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC (n.95-48_95-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC) c.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC (n.687-8082_687-8081insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC) c.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC (n.1297-48_1297-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC) n.2534-48_2534-47insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC n.995-2585_995-2584insCCCCCCCCCCCCCCCCCCCACCCCCCCCCCTCTCC | gnomAD v4 |
| 9 | g.133436785_133436799del | CA2579500366 | ADAMTS13 | c.1309-44_1309-30del (n.1309-44_1309-30del) c.1216-44_1216-30del (n.1216-44_1216-30del) c.565-44_565-30del (n.565-44_565-30del) c.*113-44_*113-30del (n.*113-44_*113-30del) n.974-2581_974-2567del c.*593-44_*593-30del (n.*593-44_*593-30del) n.993-2581_993-2567del c.919-44_919-30del (n.919-44_919-30del) c.325-44_325-30del (n.325-44_325-30del) c.319-44_319-30del (n.319-44_319-30del) c.-27-44_-27-30del (n.-27-44_-27-30del) c.95-44_95-30del (n.95-44_95-30del) c.687-8078_687-8064del (n.687-8078_687-8064del) c.1297-44_1297-30del (n.1297-44_1297-30del) n.2534-44_2534-30del n.995-2581_995-2567del | |
| 9 | g.133436780_133436781insGG | CA2692370395 | ADAMTS13 | c.1309-49_1309-48insGG (n.1309-49_1309-48insGG) c.1216-49_1216-48insGG (n.1216-49_1216-48insGG) c.565-49_565-48insGG (n.565-49_565-48insGG) c.*113-49_*113-48insGG (n.*113-49_*113-48insGG) n.974-2586_974-2585insGG c.*593-49_*593-48insGG (n.*593-49_*593-48insGG) n.993-2586_993-2585insGG c.919-49_919-48insGG (n.919-49_919-48insGG) c.325-49_325-48insGG (n.325-49_325-48insGG) c.319-49_319-48insGG (n.319-49_319-48insGG) c.-27-49_-27-48insGG (n.-27-49_-27-48insGG) c.95-49_95-48insGG (n.95-49_95-48insGG) c.687-8083_687-8082insGG (n.687-8083_687-8082insGG) c.1297-49_1297-48insGG (n.1297-49_1297-48insGG) n.2534-49_2534-48insGG n.995-2586_995-2585insGG | gnomAD v4 |
| 9 | g.133436780_133436781insGGG | CA2692370392 | ADAMTS13 | c.1309-49_1309-48insGGG (n.1309-49_1309-48insGGG) c.1216-49_1216-48insGGG (n.1216-49_1216-48insGGG) c.565-49_565-48insGGG (n.565-49_565-48insGGG) c.*113-49_*113-48insGGG (n.*113-49_*113-48insGGG) n.974-2586_974-2585insGGG c.*593-49_*593-48insGGG (n.*593-49_*593-48insGGG) n.993-2586_993-2585insGGG c.919-49_919-48insGGG (n.919-49_919-48insGGG) c.325-49_325-48insGGG (n.325-49_325-48insGGG) c.319-49_319-48insGGG (n.319-49_319-48insGGG) c.-27-49_-27-48insGGG (n.-27-49_-27-48insGGG) c.95-49_95-48insGGG (n.95-49_95-48insGGG) c.687-8083_687-8082insGGG (n.687-8083_687-8082insGGG) c.1297-49_1297-48insGGG (n.1297-49_1297-48insGGG) n.2534-49_2534-48insGGG n.995-2586_995-2585insGGG | gnomAD v4 |
| 9 | g.133436780_133436781insAGGGG | CA2692370409 | ADAMTS13 | c.1309-49_1309-48insAGGGG (n.1309-49_1309-48insAGGGG) c.1216-49_1216-48insAGGGG (n.1216-49_1216-48insAGGGG) c.565-49_565-48insAGGGG (n.565-49_565-48insAGGGG) c.*113-49_*113-48insAGGGG (n.*113-49_*113-48insAGGGG) n.974-2586_974-2585insAGGGG c.*593-49_*593-48insAGGGG (n.*593-49_*593-48insAGGGG) n.993-2586_993-2585insAGGGG c.919-49_919-48insAGGGG (n.919-49_919-48insAGGGG) c.325-49_325-48insAGGGG (n.325-49_325-48insAGGGG) c.319-49_319-48insAGGGG (n.319-49_319-48insAGGGG) c.-27-49_-27-48insAGGGG (n.-27-49_-27-48insAGGGG) c.95-49_95-48insAGGGG (n.95-49_95-48insAGGGG) c.687-8083_687-8082insAGGGG (n.687-8083_687-8082insAGGGG) c.1297-49_1297-48insAGGGG (n.1297-49_1297-48insAGGGG) n.2534-49_2534-48insAGGGG n.995-2586_995-2585insAGGGG | gnomAD v4 |
| 9 | g.133436780_133436781insGGGGG | CA2692370391 | ADAMTS13 | c.1309-49_1309-48insGGGGG (n.1309-49_1309-48insGGGGG) c.1216-49_1216-48insGGGGG (n.1216-49_1216-48insGGGGG) c.565-49_565-48insGGGGG (n.565-49_565-48insGGGGG) c.*113-49_*113-48insGGGGG (n.*113-49_*113-48insGGGGG) n.974-2586_974-2585insGGGGG c.*593-49_*593-48insGGGGG (n.*593-49_*593-48insGGGGG) n.993-2586_993-2585insGGGGG c.919-49_919-48insGGGGG (n.919-49_919-48insGGGGG) c.325-49_325-48insGGGGG (n.325-49_325-48insGGGGG) c.319-49_319-48insGGGGG (n.319-49_319-48insGGGGG) c.-27-49_-27-48insGGGGG (n.-27-49_-27-48insGGGGG) c.95-49_95-48insGGGGG (n.95-49_95-48insGGGGG) c.687-8083_687-8082insGGGGG (n.687-8083_687-8082insGGGGG) c.1297-49_1297-48insGGGGG (n.1297-49_1297-48insGGGGG) n.2534-49_2534-48insGGGGG n.995-2586_995-2585insGGGGG | gnomAD v4 |
| 9 | g.133436781C>A | CA2579500368 | ADAMTS13 | c.1309-48C>A (n.1309-48C>A) c.1216-48C>A (n.1216-48C>A) c.565-48C>A (n.565-48C>A) c.*113-48C>A (n.*113-48C>A) n.974-2585C>A c.*593-48C>A (n.*593-48C>A) n.993-2585C>A c.919-48C>A (n.919-48C>A) c.325-48C>A (n.325-48C>A) c.319-48C>A (n.319-48C>A) c.-27-48C>A (n.-27-48C>A) c.95-48C>A (n.95-48C>A) c.687-8082C>A (n.687-8082C>A) c.1297-48C>A (n.1297-48C>A) n.2534-48C>A n.995-2585C>A | gnomAD v4 |
| 9 | g.133436781C= | CA1882673068 | ADAMTS13 | c.1309-48C= (n.1309-48C=) c.1216-48C= (n.1216-48C=) c.565-48C= (n.565-48C=) c.*113-48C= (n.*113-48C=) n.974-2585C= c.*593-48C= (n.*593-48C=) n.993-2585C= c.919-48C= (n.919-48C=) c.325-48C= (n.325-48C=) c.319-48C= (n.319-48C=) c.-27-48C= (n.-27-48C=) c.95-48C= (n.95-48C=) c.687-8082C= (n.687-8082C=) c.1297-48C= (n.1297-48C=) n.2534-48C= n.995-2585C= | |
| 9 | g.133436781C>G | CA2692370388 | ADAMTS13 | c.1309-48C>G (n.1309-48C>G) c.1216-48C>G (n.1216-48C>G) c.565-48C>G (n.565-48C>G) c.*113-48C>G (n.*113-48C>G) n.974-2585C>G c.*593-48C>G (n.*593-48C>G) n.993-2585C>G c.919-48C>G (n.919-48C>G) c.325-48C>G (n.325-48C>G) c.319-48C>G (n.319-48C>G) c.-27-48C>G (n.-27-48C>G) c.95-48C>G (n.95-48C>G) c.687-8082C>G (n.687-8082C>G) c.1297-48C>G (n.1297-48C>G) n.2534-48C>G n.995-2585C>G | gnomAD v4 |
| 9 | g.133436781C>T | CA200929456 | ADAMTS13 | c.1309-48C>T (n.1309-48C>T) c.1216-48C>T (n.1216-48C>T) c.565-48C>T (n.565-48C>T) c.*113-48C>T (n.*113-48C>T) n.974-2585C>T c.*593-48C>T (n.*593-48C>T) n.993-2585C>T c.919-48C>T (n.919-48C>T) c.325-48C>T (n.325-48C>T) c.319-48C>T (n.319-48C>T) c.-27-48C>T (n.-27-48C>T) c.95-48C>T (n.95-48C>T) c.687-8082C>T (n.687-8082C>T) c.1297-48C>T (n.1297-48C>T) n.2534-48C>T n.995-2585C>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436781_133436782insAC | CA2692370402 | ADAMTS13 | c.1309-48_1309-47insAC (n.1309-48_1309-47insAC) c.1216-48_1216-47insAC (n.1216-48_1216-47insAC) c.565-48_565-47insAC (n.565-48_565-47insAC) c.*113-48_*113-47insAC (n.*113-48_*113-47insAC) n.974-2585_974-2584insAC c.*593-48_*593-47insAC (n.*593-48_*593-47insAC) n.993-2585_993-2584insAC c.919-48_919-47insAC (n.919-48_919-47insAC) c.325-48_325-47insAC (n.325-48_325-47insAC) c.319-48_319-47insAC (n.319-48_319-47insAC) c.-27-48_-27-47insAC (n.-27-48_-27-47insAC) c.95-48_95-47insAC (n.95-48_95-47insAC) c.687-8082_687-8081insAC (n.687-8082_687-8081insAC) c.1297-48_1297-47insAC (n.1297-48_1297-47insAC) n.2534-48_2534-47insAC n.995-2585_995-2584insAC | gnomAD v4 |
| 9 | g.133436781_133436782insCGC | CA2692370398 | ADAMTS13 | c.1309-48_1309-47insCGC (n.1309-48_1309-47insCGC) c.1216-48_1216-47insCGC (n.1216-48_1216-47insCGC) c.565-48_565-47insCGC (n.565-48_565-47insCGC) c.*113-48_*113-47insCGC (n.*113-48_*113-47insCGC) n.974-2585_974-2584insCGC c.*593-48_*593-47insCGC (n.*593-48_*593-47insCGC) n.993-2585_993-2584insCGC c.919-48_919-47insCGC (n.919-48_919-47insCGC) c.325-48_325-47insCGC (n.325-48_325-47insCGC) c.319-48_319-47insCGC (n.319-48_319-47insCGC) c.-27-48_-27-47insCGC (n.-27-48_-27-47insCGC) c.95-48_95-47insCGC (n.95-48_95-47insCGC) c.687-8082_687-8081insCGC (n.687-8082_687-8081insCGC) c.1297-48_1297-47insCGC (n.1297-48_1297-47insCGC) n.2534-48_2534-47insCGC n.995-2585_995-2584insCGC | gnomAD v4 |
| 9 | g.133436781_133436782delinsCG | CA1882673069 | ADAMTS13 | c.1309-48_1309-47delinsCG (n.1309-48_1309-47delinsCG) c.1216-48_1216-47delinsCG (n.1216-48_1216-47delinsCG) c.565-48_565-47delinsCG (n.565-48_565-47delinsCG) c.*113-48_*113-47delinsCG (n.*113-48_*113-47delinsCG) n.974-2585_974-2584delinsCG c.*593-48_*593-47delinsCG (n.*593-48_*593-47delinsCG) n.993-2585_993-2584delinsCG c.919-48_919-47delinsCG (n.919-48_919-47delinsCG) c.325-48_325-47delinsCG (n.325-48_325-47delinsCG) c.319-48_319-47delinsCG (n.319-48_319-47delinsCG) c.-27-48_-27-47delinsCG (n.-27-48_-27-47delinsCG) c.95-48_95-47delinsCG (n.95-48_95-47delinsCG) c.687-8082_687-8081delinsCG (n.687-8082_687-8081delinsCG) c.1297-48_1297-47delinsCG (n.1297-48_1297-47delinsCG) n.2534-48_2534-47delinsCG n.995-2585_995-2584delinsCG | |
| 9 | g.133436782_133436783del | CA2692370390 | ADAMTS13 | c.1309-47_1309-46del (n.1309-47_1309-46del) c.1216-47_1216-46del (n.1216-47_1216-46del) c.565-47_565-46del (n.565-47_565-46del) c.*113-47_*113-46del (n.*113-47_*113-46del) n.974-2584_974-2583del c.*593-47_*593-46del (n.*593-47_*593-46del) n.993-2584_993-2583del c.919-47_919-46del (n.919-47_919-46del) c.325-47_325-46del (n.325-47_325-46del) c.319-47_319-46del (n.319-47_319-46del) c.-27-47_-27-46del (n.-27-47_-27-46del) c.95-47_95-46del (n.95-47_95-46del) c.687-8081_687-8080del (n.687-8081_687-8080del) c.1297-47_1297-46del (n.1297-47_1297-46del) n.2534-47_2534-46del n.995-2584_995-2583del | gnomAD v4 |
| 9 | g.133436781_133436782insA | CA2692370439 | ADAMTS13 | c.1309-48_1309-47insA (n.1309-48_1309-47insA) c.1216-48_1216-47insA (n.1216-48_1216-47insA) c.565-48_565-47insA (n.565-48_565-47insA) c.*113-48_*113-47insA (n.*113-48_*113-47insA) n.974-2585_974-2584insA c.*593-48_*593-47insA (n.*593-48_*593-47insA) n.993-2585_993-2584insA c.919-48_919-47insA (n.919-48_919-47insA) c.325-48_325-47insA (n.325-48_325-47insA) c.319-48_319-47insA (n.319-48_319-47insA) c.-27-48_-27-47insA (n.-27-48_-27-47insA) c.95-48_95-47insA (n.95-48_95-47insA) c.687-8082_687-8081insA (n.687-8082_687-8081insA) c.1297-48_1297-47insA (n.1297-48_1297-47insA) n.2534-48_2534-47insA n.995-2585_995-2584insA | gnomAD v4 |
| 9 | g.133436781_133436782insT | CA2692370422 | ADAMTS13 | c.1309-48_1309-47insT (n.1309-48_1309-47insT) c.1216-48_1216-47insT (n.1216-48_1216-47insT) c.565-48_565-47insT (n.565-48_565-47insT) c.*113-48_*113-47insT (n.*113-48_*113-47insT) n.974-2585_974-2584insT c.*593-48_*593-47insT (n.*593-48_*593-47insT) n.993-2585_993-2584insT c.919-48_919-47insT (n.919-48_919-47insT) c.325-48_325-47insT (n.325-48_325-47insT) c.319-48_319-47insT (n.319-48_319-47insT) c.-27-48_-27-47insT (n.-27-48_-27-47insT) c.95-48_95-47insT (n.95-48_95-47insT) c.687-8082_687-8081insT (n.687-8082_687-8081insT) c.1297-48_1297-47insT (n.1297-48_1297-47insT) n.2534-48_2534-47insT n.995-2585_995-2584insT | gnomAD v4 |
| 9 | g.133436781_133436782insCCG | CA2692370438 | ADAMTS13 | c.1309-48_1309-47insCCG (n.1309-48_1309-47insCCG) c.1216-48_1216-47insCCG (n.1216-48_1216-47insCCG) c.565-48_565-47insCCG (n.565-48_565-47insCCG) c.*113-48_*113-47insCCG (n.*113-48_*113-47insCCG) n.974-2585_974-2584insCCG c.*593-48_*593-47insCCG (n.*593-48_*593-47insCCG) n.993-2585_993-2584insCCG c.919-48_919-47insCCG (n.919-48_919-47insCCG) c.325-48_325-47insCCG (n.325-48_325-47insCCG) c.319-48_319-47insCCG (n.319-48_319-47insCCG) c.-27-48_-27-47insCCG (n.-27-48_-27-47insCCG) c.95-48_95-47insCCG (n.95-48_95-47insCCG) c.687-8082_687-8081insCCG (n.687-8082_687-8081insCCG) c.1297-48_1297-47insCCG (n.1297-48_1297-47insCCG) n.2534-48_2534-47insCCG n.995-2585_995-2584insCCG | gnomAD v4 |
| 9 | g.133436781_133436782insCGCG | CA2692370437 | ADAMTS13 | c.1309-48_1309-47insCGCG (n.1309-48_1309-47insCGCG) c.1216-48_1216-47insCGCG (n.1216-48_1216-47insCGCG) c.565-48_565-47insCGCG (n.565-48_565-47insCGCG) c.*113-48_*113-47insCGCG (n.*113-48_*113-47insCGCG) n.974-2585_974-2584insCGCG c.*593-48_*593-47insCGCG (n.*593-48_*593-47insCGCG) n.993-2585_993-2584insCGCG c.919-48_919-47insCGCG (n.919-48_919-47insCGCG) c.325-48_325-47insCGCG (n.325-48_325-47insCGCG) c.319-48_319-47insCGCG (n.319-48_319-47insCGCG) c.-27-48_-27-47insCGCG (n.-27-48_-27-47insCGCG) c.95-48_95-47insCGCG (n.95-48_95-47insCGCG) c.687-8082_687-8081insCGCG (n.687-8082_687-8081insCGCG) c.1297-48_1297-47insCGCG (n.1297-48_1297-47insCGCG) n.2534-48_2534-47insCGCG n.995-2585_995-2584insCGCG | gnomAD v4 |
| 9 | g.133436781_133436782insTGGG | CA2692370421 | ADAMTS13 | c.1309-48_1309-47insTGGG (n.1309-48_1309-47insTGGG) c.1216-48_1216-47insTGGG (n.1216-48_1216-47insTGGG) c.565-48_565-47insTGGG (n.565-48_565-47insTGGG) c.*113-48_*113-47insTGGG (n.*113-48_*113-47insTGGG) n.974-2585_974-2584insTGGG c.*593-48_*593-47insTGGG (n.*593-48_*593-47insTGGG) n.993-2585_993-2584insTGGG c.919-48_919-47insTGGG (n.919-48_919-47insTGGG) c.325-48_325-47insTGGG (n.325-48_325-47insTGGG) c.319-48_319-47insTGGG (n.319-48_319-47insTGGG) c.-27-48_-27-47insTGGG (n.-27-48_-27-47insTGGG) c.95-48_95-47insTGGG (n.95-48_95-47insTGGG) c.687-8082_687-8081insTGGG (n.687-8082_687-8081insTGGG) c.1297-48_1297-47insTGGG (n.1297-48_1297-47insTGGG) n.2534-48_2534-47insTGGG n.995-2585_995-2584insTGGG | gnomAD v4 |
| 9 | g.133436782del | CA860755352 | ADAMTS13 | c.1309-47del (n.1309-47del) c.1216-47del (n.1216-47del) c.565-47del (n.565-47del) c.*113-47del (n.*113-47del) n.974-2584del c.*593-47del (n.*593-47del) n.993-2584del c.919-47del (n.919-47del) c.325-47del (n.325-47del) c.319-47del (n.319-47del) c.-27-47del (n.-27-47del) c.95-47del (n.95-47del) c.687-8081del (n.687-8081del) c.1297-47del (n.1297-47del) n.2534-47del n.995-2584del | dbSNP gnomAD v4 |
| 9 | g.133436782G>A | CA200929459 | ADAMTS13 | c.1309-47G>A (n.1309-47G>A) c.1216-47G>A (n.1216-47G>A) c.565-47G>A (n.565-47G>A) c.*113-47G>A (n.*113-47G>A) n.974-2584G>A c.*593-47G>A (n.*593-47G>A) n.993-2584G>A c.919-47G>A (n.919-47G>A) c.325-47G>A (n.325-47G>A) c.319-47G>A (n.319-47G>A) c.-27-47G>A (n.-27-47G>A) c.95-47G>A (n.95-47G>A) c.687-8081G>A (n.687-8081G>A) c.1297-47G>A (n.1297-47G>A) n.2534-47G>A n.995-2584G>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436782G>C | CA200929464 | ADAMTS13 | c.1309-47G>C (n.1309-47G>C) c.1216-47G>C (n.1216-47G>C) c.565-47G>C (n.565-47G>C) c.*113-47G>C (n.*113-47G>C) n.974-2584G>C c.*593-47G>C (n.*593-47G>C) n.993-2584G>C c.919-47G>C (n.919-47G>C) c.325-47G>C (n.325-47G>C) c.319-47G>C (n.319-47G>C) c.-27-47G>C (n.-27-47G>C) c.95-47G>C (n.95-47G>C) c.687-8081G>C (n.687-8081G>C) c.1297-47G>C (n.1297-47G>C) n.2534-47G>C n.995-2584G>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436782G= | CA1882673072 | ADAMTS13 | c.1309-47G= (n.1309-47G=) c.1216-47G= (n.1216-47G=) c.565-47G= (n.565-47G=) c.*113-47G= (n.*113-47G=) n.974-2584G= c.*593-47G= (n.*593-47G=) n.993-2584G= c.919-47G= (n.919-47G=) c.325-47G= (n.325-47G=) c.319-47G= (n.319-47G=) c.-27-47G= (n.-27-47G=) c.95-47G= (n.95-47G=) c.687-8081G= (n.687-8081G=) c.1297-47G= (n.1297-47G=) n.2534-47G= n.995-2584G= | |
| 9 | g.133436782G>T | CA2571567496 | ADAMTS13 | c.1309-47G>T (n.1309-47G>T) c.1216-47G>T (n.1216-47G>T) c.565-47G>T (n.565-47G>T) c.*113-47G>T (n.*113-47G>T) n.974-2584G>T c.*593-47G>T (n.*593-47G>T) n.993-2584G>T c.919-47G>T (n.919-47G>T) c.325-47G>T (n.325-47G>T) c.319-47G>T (n.319-47G>T) c.-27-47G>T (n.-27-47G>T) c.95-47G>T (n.95-47G>T) c.687-8081G>T (n.687-8081G>T) c.1297-47G>T (n.1297-47G>T) n.2534-47G>T n.995-2584G>T | gnomAD v4 |
| 9 | g.133436782_133436783insGGG | CA2692370428 | ADAMTS13 | c.1309-47_1309-46insGGG (n.1309-47_1309-46insGGG) c.1216-47_1216-46insGGG (n.1216-47_1216-46insGGG) c.565-47_565-46insGGG (n.565-47_565-46insGGG) c.*113-47_*113-46insGGG (n.*113-47_*113-46insGGG) n.974-2584_974-2583insGGG c.*593-47_*593-46insGGG (n.*593-47_*593-46insGGG) n.993-2584_993-2583insGGG c.919-47_919-46insGGG (n.919-47_919-46insGGG) c.325-47_325-46insGGG (n.325-47_325-46insGGG) c.319-47_319-46insGGG (n.319-47_319-46insGGG) c.-27-47_-27-46insGGG (n.-27-47_-27-46insGGG) c.95-47_95-46insGGG (n.95-47_95-46insGGG) c.687-8081_687-8080insGGG (n.687-8081_687-8080insGGG) c.1297-47_1297-46insGGG (n.1297-47_1297-46insGGG) n.2534-47_2534-46insGGG n.995-2584_995-2583insGGG | gnomAD v4 |
| 9 | g.133436782_133436783insGGGG | CA2692370426 | ADAMTS13 | c.1309-47_1309-46insGGGG (n.1309-47_1309-46insGGGG) c.1216-47_1216-46insGGGG (n.1216-47_1216-46insGGGG) c.565-47_565-46insGGGG (n.565-47_565-46insGGGG) c.*113-47_*113-46insGGGG (n.*113-47_*113-46insGGGG) n.974-2584_974-2583insGGGG c.*593-47_*593-46insGGGG (n.*593-47_*593-46insGGGG) n.993-2584_993-2583insGGGG c.919-47_919-46insGGGG (n.919-47_919-46insGGGG) c.325-47_325-46insGGGG (n.325-47_325-46insGGGG) c.319-47_319-46insGGGG (n.319-47_319-46insGGGG) c.-27-47_-27-46insGGGG (n.-27-47_-27-46insGGGG) c.95-47_95-46insGGGG (n.95-47_95-46insGGGG) c.687-8081_687-8080insGGGG (n.687-8081_687-8080insGGGG) c.1297-47_1297-46insGGGG (n.1297-47_1297-46insGGGG) n.2534-47_2534-46insGGGG n.995-2584_995-2583insGGGG | gnomAD v4 |
| 9 | g.133436782_133436783insGGGGG | CA2692370427 | ADAMTS13 | c.1309-47_1309-46insGGGGG (n.1309-47_1309-46insGGGGG) c.1216-47_1216-46insGGGGG (n.1216-47_1216-46insGGGGG) c.565-47_565-46insGGGGG (n.565-47_565-46insGGGGG) c.*113-47_*113-46insGGGGG (n.*113-47_*113-46insGGGGG) n.974-2584_974-2583insGGGGG c.*593-47_*593-46insGGGGG (n.*593-47_*593-46insGGGGG) n.993-2584_993-2583insGGGGG c.919-47_919-46insGGGGG (n.919-47_919-46insGGGGG) c.325-47_325-46insGGGGG (n.325-47_325-46insGGGGG) c.319-47_319-46insGGGGG (n.319-47_319-46insGGGGG) c.-27-47_-27-46insGGGGG (n.-27-47_-27-46insGGGGG) c.95-47_95-46insGGGGG (n.95-47_95-46insGGGGG) c.687-8081_687-8080insGGGGG (n.687-8081_687-8080insGGGGG) c.1297-47_1297-46insGGGGG (n.1297-47_1297-46insGGGGG) n.2534-47_2534-46insGGGGG n.995-2584_995-2583insGGGGG | gnomAD v4 |
| 9 | g.133436782_133436783insGCCCCCGG | CA2692370430 | ADAMTS13 | c.1309-47_1309-46insGCCCCCGG (n.1309-47_1309-46insGCCCCCGG) c.1216-47_1216-46insGCCCCCGG (n.1216-47_1216-46insGCCCCCGG) c.565-47_565-46insGCCCCCGG (n.565-47_565-46insGCCCCCGG) c.*113-47_*113-46insGCCCCCGG (n.*113-47_*113-46insGCCCCCGG) n.974-2584_974-2583insGCCCCCGG c.*593-47_*593-46insGCCCCCGG (n.*593-47_*593-46insGCCCCCGG) n.993-2584_993-2583insGCCCCCGG c.919-47_919-46insGCCCCCGG (n.919-47_919-46insGCCCCCGG) c.325-47_325-46insGCCCCCGG (n.325-47_325-46insGCCCCCGG) c.319-47_319-46insGCCCCCGG (n.319-47_319-46insGCCCCCGG) c.-27-47_-27-46insGCCCCCGG (n.-27-47_-27-46insGCCCCCGG) c.95-47_95-46insGCCCCCGG (n.95-47_95-46insGCCCCCGG) c.687-8081_687-8080insGCCCCCGG (n.687-8081_687-8080insGCCCCCGG) c.1297-47_1297-46insGCCCCCGG (n.1297-47_1297-46insGCCCCCGG) n.2534-47_2534-46insGCCCCCGG n.995-2584_995-2583insGCCCCCGG | gnomAD v4 |
| 9 | g.133436782_133436783insGGCCCCGG | CA2692370417 | ADAMTS13 | c.1309-47_1309-46insGGCCCCGG (n.1309-47_1309-46insGGCCCCGG) c.1216-47_1216-46insGGCCCCGG (n.1216-47_1216-46insGGCCCCGG) c.565-47_565-46insGGCCCCGG (n.565-47_565-46insGGCCCCGG) c.*113-47_*113-46insGGCCCCGG (n.*113-47_*113-46insGGCCCCGG) n.974-2584_974-2583insGGCCCCGG c.*593-47_*593-46insGGCCCCGG (n.*593-47_*593-46insGGCCCCGG) n.993-2584_993-2583insGGCCCCGG c.919-47_919-46insGGCCCCGG (n.919-47_919-46insGGCCCCGG) c.325-47_325-46insGGCCCCGG (n.325-47_325-46insGGCCCCGG) c.319-47_319-46insGGCCCCGG (n.319-47_319-46insGGCCCCGG) c.-27-47_-27-46insGGCCCCGG (n.-27-47_-27-46insGGCCCCGG) c.95-47_95-46insGGCCCCGG (n.95-47_95-46insGGCCCCGG) c.687-8081_687-8080insGGCCCCGG (n.687-8081_687-8080insGGCCCCGG) c.1297-47_1297-46insGGCCCCGG (n.1297-47_1297-46insGGCCCCGG) n.2534-47_2534-46insGGCCCCGG n.995-2584_995-2583insGGCCCCGG | gnomAD v4 |
| 9 | g.133436782_133436783insGGGGGGGG | CA2692370425 | ADAMTS13 | c.1309-47_1309-46insGGGGGGGG (n.1309-47_1309-46insGGGGGGGG) c.1216-47_1216-46insGGGGGGGG (n.1216-47_1216-46insGGGGGGGG) c.565-47_565-46insGGGGGGGG (n.565-47_565-46insGGGGGGGG) c.*113-47_*113-46insGGGGGGGG (n.*113-47_*113-46insGGGGGGGG) n.974-2584_974-2583insGGGGGGGG c.*593-47_*593-46insGGGGGGGG (n.*593-47_*593-46insGGGGGGGG) n.993-2584_993-2583insGGGGGGGG c.919-47_919-46insGGGGGGGG (n.919-47_919-46insGGGGGGGG) c.325-47_325-46insGGGGGGGG (n.325-47_325-46insGGGGGGGG) c.319-47_319-46insGGGGGGGG (n.319-47_319-46insGGGGGGGG) c.-27-47_-27-46insGGGGGGGG (n.-27-47_-27-46insGGGGGGGG) c.95-47_95-46insGGGGGGGG (n.95-47_95-46insGGGGGGGG) c.687-8081_687-8080insGGGGGGGG (n.687-8081_687-8080insGGGGGGGG) c.1297-47_1297-46insGGGGGGGG (n.1297-47_1297-46insGGGGGGGG) n.2534-47_2534-46insGGGGGGGG n.995-2584_995-2583insGGGGGGGG | gnomAD v4 |
| 9 | g.133436782dup | CA2579500369 | ADAMTS13 | c.1309-47dup (n.1309-47dup) c.1216-47dup (n.1216-47dup) c.565-47dup (n.565-47dup) c.*113-47dup (n.*113-47dup) n.974-2584dup c.*593-47dup (n.*593-47dup) n.993-2584dup c.919-47dup (n.919-47dup) c.325-47dup (n.325-47dup) c.319-47dup (n.319-47dup) c.-27-47dup (n.-27-47dup) c.95-47dup (n.95-47dup) c.687-8081dup (n.687-8081dup) c.1297-47dup (n.1297-47dup) n.2534-47dup n.995-2584dup | gnomAD v4 |
| 9 | g.133436782_133436783delinsGC | CA1882673071 | ADAMTS13 | c.1309-47_1309-46delinsGC (n.1309-47_1309-46delinsGC) c.1216-47_1216-46delinsGC (n.1216-47_1216-46delinsGC) c.565-47_565-46delinsGC (n.565-47_565-46delinsGC) c.*113-47_*113-46delinsGC (n.*113-47_*113-46delinsGC) n.974-2584_974-2583delinsGC c.*593-47_*593-46delinsGC (n.*593-47_*593-46delinsGC) n.993-2584_993-2583delinsGC c.919-47_919-46delinsGC (n.919-47_919-46delinsGC) c.325-47_325-46delinsGC (n.325-47_325-46delinsGC) c.319-47_319-46delinsGC (n.319-47_319-46delinsGC) c.-27-47_-27-46delinsGC (n.-27-47_-27-46delinsGC) c.95-47_95-46delinsGC (n.95-47_95-46delinsGC) c.687-8081_687-8080delinsGC (n.687-8081_687-8080delinsGC) c.1297-47_1297-46delinsGC (n.1297-47_1297-46delinsGC) n.2534-47_2534-46delinsGC n.995-2584_995-2583delinsGC | |
| 9 | g.133436782_133436789dup | CA2692370431 | ADAMTS13 | c.1309-47_1309-40dup (n.1309-47_1309-40dup) c.1216-47_1216-40dup (n.1216-47_1216-40dup) c.565-47_565-40dup (n.565-47_565-40dup) c.*113-47_*113-40dup (n.*113-47_*113-40dup) n.974-2584_974-2577dup c.*593-47_*593-40dup (n.*593-47_*593-40dup) n.993-2584_993-2577dup c.919-47_919-40dup (n.919-47_919-40dup) c.325-47_325-40dup (n.325-47_325-40dup) c.319-47_319-40dup (n.319-47_319-40dup) c.-27-47_-27-40dup (n.-27-47_-27-40dup) c.95-47_95-40dup (n.95-47_95-40dup) c.687-8081_687-8074dup (n.687-8081_687-8074dup) c.1297-47_1297-40dup (n.1297-47_1297-40dup) n.2534-47_2534-40dup n.995-2584_995-2577dup | gnomAD v4 |
| 9 | g.133436782_133436790delinsGCCCCCCGC | CA1882673070 | ADAMTS13 | c.1309-47_1309-39delinsGCCCCCCGC (n.1309-47_1309-39delinsGCCCCCCGC) c.1216-47_1216-39delinsGCCCCCCGC (n.1216-47_1216-39delinsGCCCCCCGC) c.565-47_565-39delinsGCCCCCCGC (n.565-47_565-39delinsGCCCCCCGC) c.*113-47_*113-39delinsGCCCCCCGC (n.*113-47_*113-39delinsGCCCCCCGC) n.974-2584_974-2576delinsGCCCCCCGC c.*593-47_*593-39delinsGCCCCCCGC (n.*593-47_*593-39delinsGCCCCCCGC) n.993-2584_993-2576delinsGCCCCCCGC c.919-47_919-39delinsGCCCCCCGC (n.919-47_919-39delinsGCCCCCCGC) c.325-47_325-39delinsGCCCCCCGC (n.325-47_325-39delinsGCCCCCCGC) c.319-47_319-39delinsGCCCCCCGC (n.319-47_319-39delinsGCCCCCCGC) c.-27-47_-27-39delinsGCCCCCCGC (n.-27-47_-27-39delinsGCCCCCCGC) c.95-47_95-39delinsGCCCCCCGC (n.95-47_95-39delinsGCCCCCCGC) c.687-8081_687-8073delinsGCCCCCCGC (n.687-8081_687-8073delinsGCCCCCCGC) c.1297-47_1297-39delinsGCCCCCCGC (n.1297-47_1297-39delinsGCCCCCCGC) n.2534-47_2534-39delinsGCCCCCCGC n.995-2584_995-2576delinsGCCCCCCGC | |
| 9 | g.133436782_133436783insGCCC | CA2579500370 | ADAMTS13 | c.1309-47_1309-46insGCCC (n.1309-47_1309-46insGCCC) c.1216-47_1216-46insGCCC (n.1216-47_1216-46insGCCC) c.565-47_565-46insGCCC (n.565-47_565-46insGCCC) c.*113-47_*113-46insGCCC (n.*113-47_*113-46insGCCC) n.974-2584_974-2583insGCCC c.*593-47_*593-46insGCCC (n.*593-47_*593-46insGCCC) n.993-2584_993-2583insGCCC c.919-47_919-46insGCCC (n.919-47_919-46insGCCC) c.325-47_325-46insGCCC (n.325-47_325-46insGCCC) c.319-47_319-46insGCCC (n.319-47_319-46insGCCC) c.-27-47_-27-46insGCCC (n.-27-47_-27-46insGCCC) c.95-47_95-46insGCCC (n.95-47_95-46insGCCC) c.687-8081_687-8080insGCCC (n.687-8081_687-8080insGCCC) c.1297-47_1297-46insGCCC (n.1297-47_1297-46insGCCC) n.2534-47_2534-46insGCCC n.995-2584_995-2583insGCCC | |
| 9 | g.133436782_133436783insGCCCCCCC | CA2692370468 | ADAMTS13 | c.1309-47_1309-46insGCCCCCCC (n.1309-47_1309-46insGCCCCCCC) c.1216-47_1216-46insGCCCCCCC (n.1216-47_1216-46insGCCCCCCC) c.565-47_565-46insGCCCCCCC (n.565-47_565-46insGCCCCCCC) c.*113-47_*113-46insGCCCCCCC (n.*113-47_*113-46insGCCCCCCC) n.974-2584_974-2583insGCCCCCCC c.*593-47_*593-46insGCCCCCCC (n.*593-47_*593-46insGCCCCCCC) n.993-2584_993-2583insGCCCCCCC c.919-47_919-46insGCCCCCCC (n.919-47_919-46insGCCCCCCC) c.325-47_325-46insGCCCCCCC (n.325-47_325-46insGCCCCCCC) c.319-47_319-46insGCCCCCCC (n.319-47_319-46insGCCCCCCC) c.-27-47_-27-46insGCCCCCCC (n.-27-47_-27-46insGCCCCCCC) c.95-47_95-46insGCCCCCCC (n.95-47_95-46insGCCCCCCC) c.687-8081_687-8080insGCCCCCCC (n.687-8081_687-8080insGCCCCCCC) c.1297-47_1297-46insGCCCCCCC (n.1297-47_1297-46insGCCCCCCC) n.2534-47_2534-46insGCCCCCCC n.995-2584_995-2583insGCCCCCCC | gnomAD v4 |
| 9 | g.133436782_133436783insGCCCCCCCC | CA2692370473 | ADAMTS13 | c.1309-47_1309-46insGCCCCCCCC (n.1309-47_1309-46insGCCCCCCCC) c.1216-47_1216-46insGCCCCCCCC (n.1216-47_1216-46insGCCCCCCCC) c.565-47_565-46insGCCCCCCCC (n.565-47_565-46insGCCCCCCCC) c.*113-47_*113-46insGCCCCCCCC (n.*113-47_*113-46insGCCCCCCCC) n.974-2584_974-2583insGCCCCCCCC c.*593-47_*593-46insGCCCCCCCC (n.*593-47_*593-46insGCCCCCCCC) n.993-2584_993-2583insGCCCCCCCC c.919-47_919-46insGCCCCCCCC (n.919-47_919-46insGCCCCCCCC) c.325-47_325-46insGCCCCCCCC (n.325-47_325-46insGCCCCCCCC) c.319-47_319-46insGCCCCCCCC (n.319-47_319-46insGCCCCCCCC) c.-27-47_-27-46insGCCCCCCCC (n.-27-47_-27-46insGCCCCCCCC) c.95-47_95-46insGCCCCCCCC (n.95-47_95-46insGCCCCCCCC) c.687-8081_687-8080insGCCCCCCCC (n.687-8081_687-8080insGCCCCCCCC) c.1297-47_1297-46insGCCCCCCCC (n.1297-47_1297-46insGCCCCCCCC) n.2534-47_2534-46insGCCCCCCCC n.995-2584_995-2583insGCCCCCCCC | gnomAD v4 |
| 9 | g.133436783C>A | CA2579500371 | ADAMTS13 | c.1309-46C>A (n.1309-46C>A) c.1216-46C>A (n.1216-46C>A) c.565-46C>A (n.565-46C>A) c.*113-46C>A (n.*113-46C>A) n.974-2583C>A c.*593-46C>A (n.*593-46C>A) n.993-2583C>A c.919-46C>A (n.919-46C>A) c.325-46C>A (n.325-46C>A) c.319-46C>A (n.319-46C>A) c.-27-46C>A (n.-27-46C>A) c.95-46C>A (n.95-46C>A) c.687-8080C>A (n.687-8080C>A) c.1297-46C>A (n.1297-46C>A) n.2534-46C>A n.995-2583C>A | gnomAD v4 |
| 9 | g.133436783C= | CA1882673073 | ADAMTS13 | c.1309-46C= (n.1309-46C=) c.1216-46C= (n.1216-46C=) c.565-46C= (n.565-46C=) c.*113-46C= (n.*113-46C=) n.974-2583C= c.*593-46C= (n.*593-46C=) n.993-2583C= c.919-46C= (n.919-46C=) c.325-46C= (n.325-46C=) c.319-46C= (n.319-46C=) c.-27-46C= (n.-27-46C=) c.95-46C= (n.95-46C=) c.687-8080C= (n.687-8080C=) c.1297-46C= (n.1297-46C=) n.2534-46C= n.995-2583C= | |
| 9 | g.133436783C>G | CA2579500372 | ADAMTS13 | c.1309-46C>G (n.1309-46C>G) c.1216-46C>G (n.1216-46C>G) c.565-46C>G (n.565-46C>G) c.*113-46C>G (n.*113-46C>G) n.974-2583C>G c.*593-46C>G (n.*593-46C>G) n.993-2583C>G c.919-46C>G (n.919-46C>G) c.325-46C>G (n.325-46C>G) c.319-46C>G (n.319-46C>G) c.-27-46C>G (n.-27-46C>G) c.95-46C>G (n.95-46C>G) c.687-8080C>G (n.687-8080C>G) c.1297-46C>G (n.1297-46C>G) n.2534-46C>G n.995-2583C>G | gnomAD v4 |
| 9 | g.133436783C>T | CA200929485 | ADAMTS13 | c.1309-46C>T (n.1309-46C>T) c.1216-46C>T (n.1216-46C>T) c.565-46C>T (n.565-46C>T) c.*113-46C>T (n.*113-46C>T) n.974-2583C>T c.*593-46C>T (n.*593-46C>T) n.993-2583C>T c.919-46C>T (n.919-46C>T) c.325-46C>T (n.325-46C>T) c.319-46C>T (n.319-46C>T) c.-27-46C>T (n.-27-46C>T) c.95-46C>T (n.95-46C>T) c.687-8080C>T (n.687-8080C>T) c.1297-46C>T (n.1297-46C>T) n.2534-46C>T n.995-2583C>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436783_133436788del | CA2786169564 | ADAMTS13 | c.1309-46_1309-41del (n.1309-46_1309-41del) c.1216-46_1216-41del (n.1216-46_1216-41del) c.565-46_565-41del (n.565-46_565-41del) c.*113-46_*113-41del (n.*113-46_*113-41del) n.974-2583_974-2578del c.*593-46_*593-41del (n.*593-46_*593-41del) n.993-2583_993-2578del c.919-46_919-41del (n.919-46_919-41del) c.325-46_325-41del (n.325-46_325-41del) c.319-46_319-41del (n.319-46_319-41del) c.-27-46_-27-41del (n.-27-46_-27-41del) c.95-46_95-41del (n.95-46_95-41del) c.687-8080_687-8075del (n.687-8080_687-8075del) c.1297-46_1297-41del (n.1297-46_1297-41del) n.2534-46_2534-41del n.995-2583_995-2578del | |
| 9 | g.133436788_133436789insCCCCCCC | CA2692370492 | ADAMTS13 | c.1309-41_1309-40insCCCCCCC (n.1309-41_1309-40insCCCCCCC) c.1216-41_1216-40insCCCCCCC (n.1216-41_1216-40insCCCCCCC) c.565-41_565-40insCCCCCCC (n.565-41_565-40insCCCCCCC) c.*113-41_*113-40insCCCCCCC (n.*113-41_*113-40insCCCCCCC) n.974-2578_974-2577insCCCCCCC c.*593-41_*593-40insCCCCCCC (n.*593-41_*593-40insCCCCCCC) n.993-2578_993-2577insCCCCCCC c.919-41_919-40insCCCCCCC (n.919-41_919-40insCCCCCCC) c.325-41_325-40insCCCCCCC (n.325-41_325-40insCCCCCCC) c.319-41_319-40insCCCCCCC (n.319-41_319-40insCCCCCCC) c.-27-41_-27-40insCCCCCCC (n.-27-41_-27-40insCCCCCCC) c.95-41_95-40insCCCCCCC (n.95-41_95-40insCCCCCCC) c.687-8075_687-8074insCCCCCCC (n.687-8075_687-8074insCCCCCCC) c.1297-41_1297-40insCCCCCCC (n.1297-41_1297-40insCCCCCCC) n.2534-41_2534-40insCCCCCCC n.995-2578_995-2577insCCCCCCC | gnomAD v4 |
| 9 | g.133436788_133436789insCCCCCCCC | CA2692370493 | ADAMTS13 | c.1309-41_1309-40insCCCCCCCC (n.1309-41_1309-40insCCCCCCCC) c.1216-41_1216-40insCCCCCCCC (n.1216-41_1216-40insCCCCCCCC) c.565-41_565-40insCCCCCCCC (n.565-41_565-40insCCCCCCCC) c.*113-41_*113-40insCCCCCCCC (n.*113-41_*113-40insCCCCCCCC) n.974-2578_974-2577insCCCCCCCC c.*593-41_*593-40insCCCCCCCC (n.*593-41_*593-40insCCCCCCCC) n.993-2578_993-2577insCCCCCCCC c.919-41_919-40insCCCCCCCC (n.919-41_919-40insCCCCCCCC) c.325-41_325-40insCCCCCCCC (n.325-41_325-40insCCCCCCCC) c.319-41_319-40insCCCCCCCC (n.319-41_319-40insCCCCCCCC) c.-27-41_-27-40insCCCCCCCC (n.-27-41_-27-40insCCCCCCCC) c.95-41_95-40insCCCCCCCC (n.95-41_95-40insCCCCCCCC) c.687-8075_687-8074insCCCCCCCC (n.687-8075_687-8074insCCCCCCCC) c.1297-41_1297-40insCCCCCCCC (n.1297-41_1297-40insCCCCCCCC) n.2534-41_2534-40insCCCCCCCC n.995-2578_995-2577insCCCCCCCC | gnomAD v4 |
| 9 | g.133436788_133436789insCCCCCCCCCC | CA2692370494 | ADAMTS13 | c.1309-41_1309-40insCCCCCCCCCC (n.1309-41_1309-40insCCCCCCCCCC) c.1216-41_1216-40insCCCCCCCCCC (n.1216-41_1216-40insCCCCCCCCCC) c.565-41_565-40insCCCCCCCCCC (n.565-41_565-40insCCCCCCCCCC) c.*113-41_*113-40insCCCCCCCCCC (n.*113-41_*113-40insCCCCCCCCCC) n.974-2578_974-2577insCCCCCCCCCC c.*593-41_*593-40insCCCCCCCCCC (n.*593-41_*593-40insCCCCCCCCCC) n.993-2578_993-2577insCCCCCCCCCC c.919-41_919-40insCCCCCCCCCC (n.919-41_919-40insCCCCCCCCCC) c.325-41_325-40insCCCCCCCCCC (n.325-41_325-40insCCCCCCCCCC) c.319-41_319-40insCCCCCCCCCC (n.319-41_319-40insCCCCCCCCCC) c.-27-41_-27-40insCCCCCCCCCC (n.-27-41_-27-40insCCCCCCCCCC) c.95-41_95-40insCCCCCCCCCC (n.95-41_95-40insCCCCCCCCCC) c.687-8075_687-8074insCCCCCCCCCC (n.687-8075_687-8074insCCCCCCCCCC) c.1297-41_1297-40insCCCCCCCCCC (n.1297-41_1297-40insCCCCCCCCCC) n.2534-41_2534-40insCCCCCCCCCC n.995-2578_995-2577insCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436788_133436789insCCCCCCCCCCC | CA2692370497 | ADAMTS13 | c.1309-41_1309-40insCCCCCCCCCCC (n.1309-41_1309-40insCCCCCCCCCCC) c.1216-41_1216-40insCCCCCCCCCCC (n.1216-41_1216-40insCCCCCCCCCCC) c.565-41_565-40insCCCCCCCCCCC (n.565-41_565-40insCCCCCCCCCCC) c.*113-41_*113-40insCCCCCCCCCCC (n.*113-41_*113-40insCCCCCCCCCCC) n.974-2578_974-2577insCCCCCCCCCCC c.*593-41_*593-40insCCCCCCCCCCC (n.*593-41_*593-40insCCCCCCCCCCC) n.993-2578_993-2577insCCCCCCCCCCC c.919-41_919-40insCCCCCCCCCCC (n.919-41_919-40insCCCCCCCCCCC) c.325-41_325-40insCCCCCCCCCCC (n.325-41_325-40insCCCCCCCCCCC) c.319-41_319-40insCCCCCCCCCCC (n.319-41_319-40insCCCCCCCCCCC) c.-27-41_-27-40insCCCCCCCCCCC (n.-27-41_-27-40insCCCCCCCCCCC) c.95-41_95-40insCCCCCCCCCCC (n.95-41_95-40insCCCCCCCCCCC) c.687-8075_687-8074insCCCCCCCCCCC (n.687-8075_687-8074insCCCCCCCCCCC) c.1297-41_1297-40insCCCCCCCCCCC (n.1297-41_1297-40insCCCCCCCCCCC) n.2534-41_2534-40insCCCCCCCCCCC n.995-2578_995-2577insCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436788_133436789insCCCCCCCCCCCC | CA2692370501 | ADAMTS13 | c.1309-41_1309-40insCCCCCCCCCCCC (n.1309-41_1309-40insCCCCCCCCCCCC) c.1216-41_1216-40insCCCCCCCCCCCC (n.1216-41_1216-40insCCCCCCCCCCCC) c.565-41_565-40insCCCCCCCCCCCC (n.565-41_565-40insCCCCCCCCCCCC) c.*113-41_*113-40insCCCCCCCCCCCC (n.*113-41_*113-40insCCCCCCCCCCCC) n.974-2578_974-2577insCCCCCCCCCCCC c.*593-41_*593-40insCCCCCCCCCCCC (n.*593-41_*593-40insCCCCCCCCCCCC) n.993-2578_993-2577insCCCCCCCCCCCC c.919-41_919-40insCCCCCCCCCCCC (n.919-41_919-40insCCCCCCCCCCCC) c.325-41_325-40insCCCCCCCCCCCC (n.325-41_325-40insCCCCCCCCCCCC) c.319-41_319-40insCCCCCCCCCCCC (n.319-41_319-40insCCCCCCCCCCCC) c.-27-41_-27-40insCCCCCCCCCCCC (n.-27-41_-27-40insCCCCCCCCCCCC) c.95-41_95-40insCCCCCCCCCCCC (n.95-41_95-40insCCCCCCCCCCCC) c.687-8075_687-8074insCCCCCCCCCCCC (n.687-8075_687-8074insCCCCCCCCCCCC) c.1297-41_1297-40insCCCCCCCCCCCC (n.1297-41_1297-40insCCCCCCCCCCCC) n.2534-41_2534-40insCCCCCCCCCCCC n.995-2578_995-2577insCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436788_133436789insCCCCCCCCCCCCC | CA2692370502 | ADAMTS13 | c.1309-41_1309-40insCCCCCCCCCCCCC (n.1309-41_1309-40insCCCCCCCCCCCCC) c.1216-41_1216-40insCCCCCCCCCCCCC (n.1216-41_1216-40insCCCCCCCCCCCCC) c.565-41_565-40insCCCCCCCCCCCCC (n.565-41_565-40insCCCCCCCCCCCCC) c.*113-41_*113-40insCCCCCCCCCCCCC (n.*113-41_*113-40insCCCCCCCCCCCCC) n.974-2578_974-2577insCCCCCCCCCCCCC c.*593-41_*593-40insCCCCCCCCCCCCC (n.*593-41_*593-40insCCCCCCCCCCCCC) n.993-2578_993-2577insCCCCCCCCCCCCC c.919-41_919-40insCCCCCCCCCCCCC (n.919-41_919-40insCCCCCCCCCCCCC) c.325-41_325-40insCCCCCCCCCCCCC (n.325-41_325-40insCCCCCCCCCCCCC) c.319-41_319-40insCCCCCCCCCCCCC (n.319-41_319-40insCCCCCCCCCCCCC) c.-27-41_-27-40insCCCCCCCCCCCCC (n.-27-41_-27-40insCCCCCCCCCCCCC) c.95-41_95-40insCCCCCCCCCCCCC (n.95-41_95-40insCCCCCCCCCCCCC) c.687-8075_687-8074insCCCCCCCCCCCCC (n.687-8075_687-8074insCCCCCCCCCCCCC) c.1297-41_1297-40insCCCCCCCCCCCCC (n.1297-41_1297-40insCCCCCCCCCCCCC) n.2534-41_2534-40insCCCCCCCCCCCCC n.995-2578_995-2577insCCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436788_133436789insCCCCCCCCCCCCCCCC | CA2692370505 | ADAMTS13 | c.1309-41_1309-40insCCCCCCCCCCCCCCCC (n.1309-41_1309-40insCCCCCCCCCCCCCCCC) c.1216-41_1216-40insCCCCCCCCCCCCCCCC (n.1216-41_1216-40insCCCCCCCCCCCCCCCC) c.565-41_565-40insCCCCCCCCCCCCCCCC (n.565-41_565-40insCCCCCCCCCCCCCCCC) c.*113-41_*113-40insCCCCCCCCCCCCCCCC (n.*113-41_*113-40insCCCCCCCCCCCCCCCC) n.974-2578_974-2577insCCCCCCCCCCCCCCCC c.*593-41_*593-40insCCCCCCCCCCCCCCCC (n.*593-41_*593-40insCCCCCCCCCCCCCCCC) n.993-2578_993-2577insCCCCCCCCCCCCCCCC c.919-41_919-40insCCCCCCCCCCCCCCCC (n.919-41_919-40insCCCCCCCCCCCCCCCC) c.325-41_325-40insCCCCCCCCCCCCCCCC (n.325-41_325-40insCCCCCCCCCCCCCCCC) c.319-41_319-40insCCCCCCCCCCCCCCCC (n.319-41_319-40insCCCCCCCCCCCCCCCC) c.-27-41_-27-40insCCCCCCCCCCCCCCCC (n.-27-41_-27-40insCCCCCCCCCCCCCCCC) c.95-41_95-40insCCCCCCCCCCCCCCCC (n.95-41_95-40insCCCCCCCCCCCCCCCC) c.687-8075_687-8074insCCCCCCCCCCCCCCCC (n.687-8075_687-8074insCCCCCCCCCCCCCCCC) c.1297-41_1297-40insCCCCCCCCCCCCCCCC (n.1297-41_1297-40insCCCCCCCCCCCCCCCC) n.2534-41_2534-40insCCCCCCCCCCCCCCCC n.995-2578_995-2577insCCCCCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436788_133436789insCCCCCCCCCCCCACCCCCCCCCC | CA2692370485 | ADAMTS13 | c.1309-41_1309-40insCCCCCCCCCCCCACCCCCCCCCC (n.1309-41_1309-40insCCCCCCCCCCCCACCCCCCCCCC) c.1216-41_1216-40insCCCCCCCCCCCCACCCCCCCCCC (n.1216-41_1216-40insCCCCCCCCCCCCACCCCCCCCCC) c.565-41_565-40insCCCCCCCCCCCCACCCCCCCCCC (n.565-41_565-40insCCCCCCCCCCCCACCCCCCCCCC) c.*113-41_*113-40insCCCCCCCCCCCCACCCCCCCCCC (n.*113-41_*113-40insCCCCCCCCCCCCACCCCCCCCCC) n.974-2578_974-2577insCCCCCCCCCCCCACCCCCCCCCC c.*593-41_*593-40insCCCCCCCCCCCCACCCCCCCCCC (n.*593-41_*593-40insCCCCCCCCCCCCACCCCCCCCCC) n.993-2578_993-2577insCCCCCCCCCCCCACCCCCCCCCC c.919-41_919-40insCCCCCCCCCCCCACCCCCCCCCC (n.919-41_919-40insCCCCCCCCCCCCACCCCCCCCCC) c.325-41_325-40insCCCCCCCCCCCCACCCCCCCCCC (n.325-41_325-40insCCCCCCCCCCCCACCCCCCCCCC) c.319-41_319-40insCCCCCCCCCCCCACCCCCCCCCC (n.319-41_319-40insCCCCCCCCCCCCACCCCCCCCCC) c.-27-41_-27-40insCCCCCCCCCCCCACCCCCCCCCC (n.-27-41_-27-40insCCCCCCCCCCCCACCCCCCCCCC) c.95-41_95-40insCCCCCCCCCCCCACCCCCCCCCC (n.95-41_95-40insCCCCCCCCCCCCACCCCCCCCCC) c.687-8075_687-8074insCCCCCCCCCCCCACCCCCCCCCC (n.687-8075_687-8074insCCCCCCCCCCCCACCCCCCCCCC) c.1297-41_1297-40insCCCCCCCCCCCCACCCCCCCCCC (n.1297-41_1297-40insCCCCCCCCCCCCACCCCCCCCCC) n.2534-41_2534-40insCCCCCCCCCCCCACCCCCCCCCC n.995-2578_995-2577insCCCCCCCCCCCCACCCCCCCCCC | gnomAD v4 |
| 9 | g.133436788_133436789insCCCCCCCCCCCCCCCCCCCCCCCC | CA2692370464 | ADAMTS13 | c.1309-41_1309-40insCCCCCCCCCCCCCCCCCCCCCCCC (n.1309-41_1309-40insCCCCCCCCCCCCCCCCCCCCCCCC) c.1216-41_1216-40insCCCCCCCCCCCCCCCCCCCCCCCC (n.1216-41_1216-40insCCCCCCCCCCCCCCCCCCCCCCCC) c.565-41_565-40insCCCCCCCCCCCCCCCCCCCCCCCC (n.565-41_565-40insCCCCCCCCCCCCCCCCCCCCCCCC) c.*113-41_*113-40insCCCCCCCCCCCCCCCCCCCCCCCC (n.*113-41_*113-40insCCCCCCCCCCCCCCCCCCCCCCCC) n.974-2578_974-2577insCCCCCCCCCCCCCCCCCCCCCCCC c.*593-41_*593-40insCCCCCCCCCCCCCCCCCCCCCCCC (n.*593-41_*593-40insCCCCCCCCCCCCCCCCCCCCCCCC) n.993-2578_993-2577insCCCCCCCCCCCCCCCCCCCCCCCC c.919-41_919-40insCCCCCCCCCCCCCCCCCCCCCCCC (n.919-41_919-40insCCCCCCCCCCCCCCCCCCCCCCCC) c.325-41_325-40insCCCCCCCCCCCCCCCCCCCCCCCC (n.325-41_325-40insCCCCCCCCCCCCCCCCCCCCCCCC) c.319-41_319-40insCCCCCCCCCCCCCCCCCCCCCCCC (n.319-41_319-40insCCCCCCCCCCCCCCCCCCCCCCCC) c.-27-41_-27-40insCCCCCCCCCCCCCCCCCCCCCCCC (n.-27-41_-27-40insCCCCCCCCCCCCCCCCCCCCCCCC) c.95-41_95-40insCCCCCCCCCCCCCCCCCCCCCCCC (n.95-41_95-40insCCCCCCCCCCCCCCCCCCCCCCCC) c.687-8075_687-8074insCCCCCCCCCCCCCCCCCCCCCCCC (n.687-8075_687-8074insCCCCCCCCCCCCCCCCCCCCCCCC) c.1297-41_1297-40insCCCCCCCCCCCCCCCCCCCCCCCC (n.1297-41_1297-40insCCCCCCCCCCCCCCCCCCCCCCCC) n.2534-41_2534-40insCCCCCCCCCCCCCCCCCCCCCCCC n.995-2578_995-2577insCCCCCCCCCCCCCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436788_133436789insCCCCCCCCCCCCTCCCCCCCCCCC | CA2786169563 | ADAMTS13 | c.1309-41_1309-40insCCCCCCCCCCCCTCCCCCCCCCCC (n.1309-41_1309-40insCCCCCCCCCCCCTCCCCCCCCCCC) c.1216-41_1216-40insCCCCCCCCCCCCTCCCCCCCCCCC (n.1216-41_1216-40insCCCCCCCCCCCCTCCCCCCCCCCC) c.565-41_565-40insCCCCCCCCCCCCTCCCCCCCCCCC (n.565-41_565-40insCCCCCCCCCCCCTCCCCCCCCCCC) c.*113-41_*113-40insCCCCCCCCCCCCTCCCCCCCCCCC (n.*113-41_*113-40insCCCCCCCCCCCCTCCCCCCCCCCC) n.974-2578_974-2577insCCCCCCCCCCCCTCCCCCCCCCCC c.*593-41_*593-40insCCCCCCCCCCCCTCCCCCCCCCCC (n.*593-41_*593-40insCCCCCCCCCCCCTCCCCCCCCCCC) n.993-2578_993-2577insCCCCCCCCCCCCTCCCCCCCCCCC c.919-41_919-40insCCCCCCCCCCCCTCCCCCCCCCCC (n.919-41_919-40insCCCCCCCCCCCCTCCCCCCCCCCC) c.325-41_325-40insCCCCCCCCCCCCTCCCCCCCCCCC (n.325-41_325-40insCCCCCCCCCCCCTCCCCCCCCCCC) c.319-41_319-40insCCCCCCCCCCCCTCCCCCCCCCCC (n.319-41_319-40insCCCCCCCCCCCCTCCCCCCCCCCC) c.-27-41_-27-40insCCCCCCCCCCCCTCCCCCCCCCCC (n.-27-41_-27-40insCCCCCCCCCCCCTCCCCCCCCCCC) c.95-41_95-40insCCCCCCCCCCCCTCCCCCCCCCCC (n.95-41_95-40insCCCCCCCCCCCCTCCCCCCCCCCC) c.687-8075_687-8074insCCCCCCCCCCCCTCCCCCCCCCCC (n.687-8075_687-8074insCCCCCCCCCCCCTCCCCCCCCCCC) c.1297-41_1297-40insCCCCCCCCCCCCTCCCCCCCCCCC (n.1297-41_1297-40insCCCCCCCCCCCCTCCCCCCCCCCC) n.2534-41_2534-40insCCCCCCCCCCCCTCCCCCCCCCCC n.995-2578_995-2577insCCCCCCCCCCCCTCCCCCCCCCCC | |
| 9 | g.133436788_133436789insCCACCCCCCCCACCCCCCTCCCCCCCCCCC | CA2786169565 | ADAMTS13 | c.1309-41_1309-40insCCACCCCCCCCACCCCCCTCCCCCCCCCCC (n.1309-41_1309-40insCCACCCCCCCCACCCCCCTCCCCCCCCCCC) c.1216-41_1216-40insCCACCCCCCCCACCCCCCTCCCCCCCCCCC (n.1216-41_1216-40insCCACCCCCCCCACCCCCCTCCCCCCCCCCC) c.565-41_565-40insCCACCCCCCCCACCCCCCTCCCCCCCCCCC (n.565-41_565-40insCCACCCCCCCCACCCCCCTCCCCCCCCCCC) c.*113-41_*113-40insCCACCCCCCCCACCCCCCTCCCCCCCCCCC (n.*113-41_*113-40insCCACCCCCCCCACCCCCCTCCCCCCCCCCC) n.974-2578_974-2577insCCACCCCCCCCACCCCCCTCCCCCCCCCCC c.*593-41_*593-40insCCACCCCCCCCACCCCCCTCCCCCCCCCCC (n.*593-41_*593-40insCCACCCCCCCCACCCCCCTCCCCCCCCCCC) n.993-2578_993-2577insCCACCCCCCCCACCCCCCTCCCCCCCCCCC c.919-41_919-40insCCACCCCCCCCACCCCCCTCCCCCCCCCCC (n.919-41_919-40insCCACCCCCCCCACCCCCCTCCCCCCCCCCC) c.325-41_325-40insCCACCCCCCCCACCCCCCTCCCCCCCCCCC (n.325-41_325-40insCCACCCCCCCCACCCCCCTCCCCCCCCCCC) c.319-41_319-40insCCACCCCCCCCACCCCCCTCCCCCCCCCCC (n.319-41_319-40insCCACCCCCCCCACCCCCCTCCCCCCCCCCC) c.-27-41_-27-40insCCACCCCCCCCACCCCCCTCCCCCCCCCCC (n.-27-41_-27-40insCCACCCCCCCCACCCCCCTCCCCCCCCCCC) c.95-41_95-40insCCACCCCCCCCACCCCCCTCCCCCCCCCCC (n.95-41_95-40insCCACCCCCCCCACCCCCCTCCCCCCCCCCC) c.687-8075_687-8074insCCACCCCCCCCACCCCCCTCCCCCCCCCCC (n.687-8075_687-8074insCCACCCCCCCCACCCCCCTCCCCCCCCCCC) c.1297-41_1297-40insCCACCCCCCCCACCCCCCTCCCCCCCCCCC (n.1297-41_1297-40insCCACCCCCCCCACCCCCCTCCCCCCCCCCC) n.2534-41_2534-40insCCACCCCCCCCACCCCCCTCCCCCCCCCCC n.995-2578_995-2577insCCACCCCCCCCACCCCCCTCCCCCCCCCCC | |
| 9 | g.133436788_133436789insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC | CA2692370461 | ADAMTS13 | c.1309-41_1309-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC (n.1309-41_1309-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC) c.1216-41_1216-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC (n.1216-41_1216-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC) c.565-41_565-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC (n.565-41_565-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC) c.*113-41_*113-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC (n.*113-41_*113-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC) n.974-2578_974-2577insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC c.*593-41_*593-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC (n.*593-41_*593-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC) n.993-2578_993-2577insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC c.919-41_919-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC (n.919-41_919-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC) c.325-41_325-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC (n.325-41_325-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC) c.319-41_319-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC (n.319-41_319-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC) c.-27-41_-27-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC (n.-27-41_-27-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC) c.95-41_95-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC (n.95-41_95-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC) c.687-8075_687-8074insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC (n.687-8075_687-8074insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC) c.1297-41_1297-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC (n.1297-41_1297-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC) n.2534-41_2534-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC n.995-2578_995-2577insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436788_133436789insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2692370466 | ADAMTS13 | c.1309-41_1309-40insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.1309-41_1309-40insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.1216-41_1216-40insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.1216-41_1216-40insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.565-41_565-40insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.565-41_565-40insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.*113-41_*113-40insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.*113-41_*113-40insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) n.974-2578_974-2577insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC c.*593-41_*593-40insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.*593-41_*593-40insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) n.993-2578_993-2577insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC c.919-41_919-40insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.919-41_919-40insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.325-41_325-40insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.325-41_325-40insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.319-41_319-40insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.319-41_319-40insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.-27-41_-27-40insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.-27-41_-27-40insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.95-41_95-40insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.95-41_95-40insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.687-8075_687-8074insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.687-8075_687-8074insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.1297-41_1297-40insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.1297-41_1297-40insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) n.2534-41_2534-40insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC n.995-2578_995-2577insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436788_133436789insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2692370463 | ADAMTS13 | c.1309-41_1309-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.1309-41_1309-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.1216-41_1216-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.1216-41_1216-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.565-41_565-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.565-41_565-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.*113-41_*113-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.*113-41_*113-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC) n.974-2578_974-2577insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC c.*593-41_*593-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.*593-41_*593-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC) n.993-2578_993-2577insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC c.919-41_919-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.919-41_919-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.325-41_325-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.325-41_325-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.319-41_319-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.319-41_319-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.-27-41_-27-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.-27-41_-27-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.95-41_95-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.95-41_95-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.687-8075_687-8074insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.687-8075_687-8074insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.1297-41_1297-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.1297-41_1297-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC) n.2534-41_2534-40insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC n.995-2578_995-2577insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436788dup | CA860755361 | ADAMTS13 | c.1309-41dup (n.1309-41dup) c.1216-41dup (n.1216-41dup) c.565-41dup (n.565-41dup) c.*113-41dup (n.*113-41dup) n.974-2578dup c.*593-41dup (n.*593-41dup) n.993-2578dup c.919-41dup (n.919-41dup) c.325-41dup (n.325-41dup) c.319-41dup (n.319-41dup) c.-27-41dup (n.-27-41dup) c.95-41dup (n.95-41dup) c.687-8075dup (n.687-8075dup) c.1297-41dup (n.1297-41dup) n.2534-41dup n.995-2578dup | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436787_133436788dup | CA2692370483 | ADAMTS13 | c.1309-42_1309-41dup (n.1309-42_1309-41dup) c.1216-42_1216-41dup (n.1216-42_1216-41dup) c.565-42_565-41dup (n.565-42_565-41dup) c.*113-42_*113-41dup (n.*113-42_*113-41dup) n.974-2579_974-2578dup c.*593-42_*593-41dup (n.*593-42_*593-41dup) n.993-2579_993-2578dup c.919-42_919-41dup (n.919-42_919-41dup) c.325-42_325-41dup (n.325-42_325-41dup) c.319-42_319-41dup (n.319-42_319-41dup) c.-27-42_-27-41dup (n.-27-42_-27-41dup) c.95-42_95-41dup (n.95-42_95-41dup) c.687-8076_687-8075dup (n.687-8076_687-8075dup) c.1297-42_1297-41dup (n.1297-42_1297-41dup) n.2534-42_2534-41dup n.995-2579_995-2578dup | gnomAD v4 |
| 9 | g.133436786_133436788dup | CA2692370487 | ADAMTS13 | c.1309-43_1309-41dup (n.1309-43_1309-41dup) c.1216-43_1216-41dup (n.1216-43_1216-41dup) c.565-43_565-41dup (n.565-43_565-41dup) c.*113-43_*113-41dup (n.*113-43_*113-41dup) n.974-2580_974-2578dup c.*593-43_*593-41dup (n.*593-43_*593-41dup) n.993-2580_993-2578dup c.919-43_919-41dup (n.919-43_919-41dup) c.325-43_325-41dup (n.325-43_325-41dup) c.319-43_319-41dup (n.319-43_319-41dup) c.-27-43_-27-41dup (n.-27-43_-27-41dup) c.95-43_95-41dup (n.95-43_95-41dup) c.687-8077_687-8075dup (n.687-8077_687-8075dup) c.1297-43_1297-41dup (n.1297-43_1297-41dup) n.2534-43_2534-41dup n.995-2580_995-2578dup | gnomAD v4 |
| 9 | g.133436785_133436788dup | CA2692370488 | ADAMTS13 | c.1309-44_1309-41dup (n.1309-44_1309-41dup) c.1216-44_1216-41dup (n.1216-44_1216-41dup) c.565-44_565-41dup (n.565-44_565-41dup) c.*113-44_*113-41dup (n.*113-44_*113-41dup) n.974-2581_974-2578dup c.*593-44_*593-41dup (n.*593-44_*593-41dup) n.993-2581_993-2578dup c.919-44_919-41dup (n.919-44_919-41dup) c.325-44_325-41dup (n.325-44_325-41dup) c.319-44_319-41dup (n.319-44_319-41dup) c.-27-44_-27-41dup (n.-27-44_-27-41dup) c.95-44_95-41dup (n.95-44_95-41dup) c.687-8078_687-8075dup (n.687-8078_687-8075dup) c.1297-44_1297-41dup (n.1297-44_1297-41dup) n.2534-44_2534-41dup n.995-2581_995-2578dup | gnomAD v4 |
| 9 | g.133436784_133436788dup | CA2692370490 | ADAMTS13 | c.1309-45_1309-41dup (n.1309-45_1309-41dup) c.1216-45_1216-41dup (n.1216-45_1216-41dup) c.565-45_565-41dup (n.565-45_565-41dup) c.*113-45_*113-41dup (n.*113-45_*113-41dup) n.974-2582_974-2578dup c.*593-45_*593-41dup (n.*593-45_*593-41dup) n.993-2582_993-2578dup c.919-45_919-41dup (n.919-45_919-41dup) c.325-45_325-41dup (n.325-45_325-41dup) c.319-45_319-41dup (n.319-45_319-41dup) c.-27-45_-27-41dup (n.-27-45_-27-41dup) c.95-45_95-41dup (n.95-45_95-41dup) c.687-8079_687-8075dup (n.687-8079_687-8075dup) c.1297-45_1297-41dup (n.1297-45_1297-41dup) n.2534-45_2534-41dup n.995-2582_995-2578dup | gnomAD v4 |
| 9 | g.133436783_133436788dup | CA2692370481 | ADAMTS13 | c.1309-46_1309-41dup (n.1309-46_1309-41dup) c.1216-46_1216-41dup (n.1216-46_1216-41dup) c.565-46_565-41dup (n.565-46_565-41dup) c.*113-46_*113-41dup (n.*113-46_*113-41dup) n.974-2583_974-2578dup c.*593-46_*593-41dup (n.*593-46_*593-41dup) n.993-2583_993-2578dup c.919-46_919-41dup (n.919-46_919-41dup) c.325-46_325-41dup (n.325-46_325-41dup) c.319-46_319-41dup (n.319-46_319-41dup) c.-27-46_-27-41dup (n.-27-46_-27-41dup) c.95-46_95-41dup (n.95-46_95-41dup) c.687-8080_687-8075dup (n.687-8080_687-8075dup) c.1297-46_1297-41dup (n.1297-46_1297-41dup) n.2534-46_2534-41dup n.995-2583_995-2578dup | gnomAD v4 |
| 9 | g.133436788del | CA200929470 | ADAMTS13 | c.1309-41del (n.1309-41del) c.1216-41del (n.1216-41del) c.565-41del (n.565-41del) c.*113-41del (n.*113-41del) n.974-2578del c.*593-41del (n.*593-41del) n.993-2578del c.919-41del (n.919-41del) c.325-41del (n.325-41del) c.319-41del (n.319-41del) c.-27-41del (n.-27-41del) c.95-41del (n.95-41del) c.687-8075del (n.687-8075del) c.1297-41del (n.1297-41del) n.2534-41del n.995-2578del | dbSNP gnomAD v4 |
| 9 | g.133436786_133436793del | CA860755360 | ADAMTS13 | c.1309-43_1309-36del (n.1309-43_1309-36del) c.1216-43_1216-36del (n.1216-43_1216-36del) c.565-43_565-36del (n.565-43_565-36del) c.*113-43_*113-36del (n.*113-43_*113-36del) n.974-2580_974-2573del c.*593-43_*593-36del (n.*593-43_*593-36del) n.993-2580_993-2573del c.919-43_919-36del (n.919-43_919-36del) c.325-43_325-36del (n.325-43_325-36del) c.319-43_319-36del (n.319-43_319-36del) c.-27-43_-27-36del (n.-27-43_-27-36del) c.95-43_95-36del (n.95-43_95-36del) c.687-8077_687-8070del (n.687-8077_687-8070del) c.1297-43_1297-36del (n.1297-43_1297-36del) n.2534-43_2534-36del n.995-2580_995-2573del | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436783_133436822del | CA2692370476 | ADAMTS13 | c.1309-46_1309-7del (n.1309-46_1309-7del) c.1216-46_1216-7del (n.1216-46_1216-7del) c.565-46_565-7del (n.565-46_565-7del) c.*113-46_*113-7del (n.*113-46_*113-7del) n.974-2583_974-2544del c.*593-46_*593-7del (n.*593-46_*593-7del) n.993-2583_993-2544del c.919-46_919-7del (n.919-46_919-7del) c.325-46_325-7del (n.325-46_325-7del) c.319-46_319-7del (n.319-46_319-7del) c.-27-46_-27-7del (n.-27-46_-27-7del) c.95-46_95-7del (n.95-46_95-7del) c.687-8080_687-8041del (n.687-8080_687-8041del) c.1297-46_1297-7del (n.1297-46_1297-7del) n.2534-46_2534-7del n.995-2583_995-2544del | gnomAD v4 |
| 9 | g.133436783_133436784insG | CA2692370517 | ADAMTS13 | c.1309-46_1309-45insG (n.1309-46_1309-45insG) c.1216-46_1216-45insG (n.1216-46_1216-45insG) c.565-46_565-45insG (n.565-46_565-45insG) c.*113-46_*113-45insG (n.*113-46_*113-45insG) n.974-2583_974-2582insG c.*593-46_*593-45insG (n.*593-46_*593-45insG) n.993-2583_993-2582insG c.919-46_919-45insG (n.919-46_919-45insG) c.325-46_325-45insG (n.325-46_325-45insG) c.319-46_319-45insG (n.319-46_319-45insG) c.-27-46_-27-45insG (n.-27-46_-27-45insG) c.95-46_95-45insG (n.95-46_95-45insG) c.687-8080_687-8079insG (n.687-8080_687-8079insG) c.1297-46_1297-45insG (n.1297-46_1297-45insG) n.2534-46_2534-45insG n.995-2583_995-2582insG | gnomAD v4 |
| 9 | g.133436783_133436784insGG | CA2692370519 | ADAMTS13 | c.1309-46_1309-45insGG (n.1309-46_1309-45insGG) c.1216-46_1216-45insGG (n.1216-46_1216-45insGG) c.565-46_565-45insGG (n.565-46_565-45insGG) c.*113-46_*113-45insGG (n.*113-46_*113-45insGG) n.974-2583_974-2582insGG c.*593-46_*593-45insGG (n.*593-46_*593-45insGG) n.993-2583_993-2582insGG c.919-46_919-45insGG (n.919-46_919-45insGG) c.325-46_325-45insGG (n.325-46_325-45insGG) c.319-46_319-45insGG (n.319-46_319-45insGG) c.-27-46_-27-45insGG (n.-27-46_-27-45insGG) c.95-46_95-45insGG (n.95-46_95-45insGG) c.687-8080_687-8079insGG (n.687-8080_687-8079insGG) c.1297-46_1297-45insGG (n.1297-46_1297-45insGG) n.2534-46_2534-45insGG n.995-2583_995-2582insGG | gnomAD v4 |
| 9 | g.133436784C>A | CA2579500373 | ADAMTS13 | c.1309-45C>A (n.1309-45C>A) c.1216-45C>A (n.1216-45C>A) c.565-45C>A (n.565-45C>A) c.*113-45C>A (n.*113-45C>A) n.974-2582C>A c.*593-45C>A (n.*593-45C>A) n.993-2582C>A c.919-45C>A (n.919-45C>A) c.325-45C>A (n.325-45C>A) c.319-45C>A (n.319-45C>A) c.-27-45C>A (n.-27-45C>A) c.95-45C>A (n.95-45C>A) c.687-8079C>A (n.687-8079C>A) c.1297-45C>A (n.1297-45C>A) n.2534-45C>A n.995-2582C>A | gnomAD v4 |
| 9 | g.133436784C= | CA1882673074 | ADAMTS13 | c.1309-45C= (n.1309-45C=) c.1216-45C= (n.1216-45C=) c.565-45C= (n.565-45C=) c.*113-45C= (n.*113-45C=) n.974-2582C= c.*593-45C= (n.*593-45C=) n.993-2582C= c.919-45C= (n.919-45C=) c.325-45C= (n.325-45C=) c.319-45C= (n.319-45C=) c.-27-45C= (n.-27-45C=) c.95-45C= (n.95-45C=) c.687-8079C= (n.687-8079C=) c.1297-45C= (n.1297-45C=) n.2534-45C= n.995-2582C= | |
| 9 | g.133436784C>G | CA2692370512 | ADAMTS13 | c.1309-45C>G (n.1309-45C>G) c.1216-45C>G (n.1216-45C>G) c.565-45C>G (n.565-45C>G) c.*113-45C>G (n.*113-45C>G) n.974-2582C>G c.*593-45C>G (n.*593-45C>G) n.993-2582C>G c.919-45C>G (n.919-45C>G) c.325-45C>G (n.325-45C>G) c.319-45C>G (n.319-45C>G) c.-27-45C>G (n.-27-45C>G) c.95-45C>G (n.95-45C>G) c.687-8079C>G (n.687-8079C>G) c.1297-45C>G (n.1297-45C>G) n.2534-45C>G n.995-2582C>G | gnomAD v4 |
| 9 | g.133436784C>T | CA200929492 | ADAMTS13 | c.1309-45C>T (n.1309-45C>T) c.1216-45C>T (n.1216-45C>T) c.565-45C>T (n.565-45C>T) c.*113-45C>T (n.*113-45C>T) n.974-2582C>T c.*593-45C>T (n.*593-45C>T) n.993-2582C>T c.919-45C>T (n.919-45C>T) c.325-45C>T (n.325-45C>T) c.319-45C>T (n.319-45C>T) c.-27-45C>T (n.-27-45C>T) c.95-45C>T (n.95-45C>T) c.687-8079C>T (n.687-8079C>T) c.1297-45C>T (n.1297-45C>T) n.2534-45C>T n.995-2582C>T | dbSNP gnomAD v4 |
| 9 | g.133436788_133436789insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC | CA2692370515 | ADAMTS13 | c.1309-41_1309-40insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC (n.1309-41_1309-40insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC) c.1216-41_1216-40insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC (n.1216-41_1216-40insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC) c.565-41_565-40insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC (n.565-41_565-40insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC) c.*113-41_*113-40insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC (n.*113-41_*113-40insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC) n.974-2578_974-2577insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC c.*593-41_*593-40insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC (n.*593-41_*593-40insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC) n.993-2578_993-2577insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC c.919-41_919-40insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC (n.919-41_919-40insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC) c.325-41_325-40insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC (n.325-41_325-40insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC) c.319-41_319-40insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC (n.319-41_319-40insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC) c.-27-41_-27-40insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC (n.-27-41_-27-40insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC) c.95-41_95-40insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC (n.95-41_95-40insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC) c.687-8075_687-8074insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC (n.687-8075_687-8074insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC) c.1297-41_1297-40insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC (n.1297-41_1297-40insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC) n.2534-41_2534-40insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC n.995-2578_995-2577insCCCCCCCCCCCCCCCCCCCCCCCTGCCCCC | gnomAD v4 |
| 9 | g.133436784_133436785insGGG | CA2692370521 | ADAMTS13 | c.1309-45_1309-44insGGG (n.1309-45_1309-44insGGG) c.1216-45_1216-44insGGG (n.1216-45_1216-44insGGG) c.565-45_565-44insGGG (n.565-45_565-44insGGG) c.*113-45_*113-44insGGG (n.*113-45_*113-44insGGG) n.974-2582_974-2581insGGG c.*593-45_*593-44insGGG (n.*593-45_*593-44insGGG) n.993-2582_993-2581insGGG c.919-45_919-44insGGG (n.919-45_919-44insGGG) c.325-45_325-44insGGG (n.325-45_325-44insGGG) c.319-45_319-44insGGG (n.319-45_319-44insGGG) c.-27-45_-27-44insGGG (n.-27-45_-27-44insGGG) c.95-45_95-44insGGG (n.95-45_95-44insGGG) c.687-8079_687-8078insGGG (n.687-8079_687-8078insGGG) c.1297-45_1297-44insGGG (n.1297-45_1297-44insGGG) n.2534-45_2534-44insGGG n.995-2582_995-2581insGGG | gnomAD v4 |
| 9 | g.133436785C>A | CA2579500374 | ADAMTS13 | c.1309-44C>A (n.1309-44C>A) c.1216-44C>A (n.1216-44C>A) c.565-44C>A (n.565-44C>A) c.*113-44C>A (n.*113-44C>A) n.974-2581C>A c.*593-44C>A (n.*593-44C>A) n.993-2581C>A c.919-44C>A (n.919-44C>A) c.325-44C>A (n.325-44C>A) c.319-44C>A (n.319-44C>A) c.-27-44C>A (n.-27-44C>A) c.95-44C>A (n.95-44C>A) c.687-8078C>A (n.687-8078C>A) c.1297-44C>A (n.1297-44C>A) n.2534-44C>A n.995-2581C>A | gnomAD v4 |
| 9 | g.133436785C>G | CA2692370524 | ADAMTS13 | c.1309-44C>G (n.1309-44C>G) c.1216-44C>G (n.1216-44C>G) c.565-44C>G (n.565-44C>G) c.*113-44C>G (n.*113-44C>G) n.974-2581C>G c.*593-44C>G (n.*593-44C>G) n.993-2581C>G c.919-44C>G (n.919-44C>G) c.325-44C>G (n.325-44C>G) c.319-44C>G (n.319-44C>G) c.-27-44C>G (n.-27-44C>G) c.95-44C>G (n.95-44C>G) c.687-8078C>G (n.687-8078C>G) c.1297-44C>G (n.1297-44C>G) n.2534-44C>G n.995-2581C>G | gnomAD v4 |
| 9 | g.133436785C>T | CA2540082134 | ADAMTS13 | c.1309-44C>T (n.1309-44C>T) c.1216-44C>T (n.1216-44C>T) c.565-44C>T (n.565-44C>T) c.*113-44C>T (n.*113-44C>T) n.974-2581C>T c.*593-44C>T (n.*593-44C>T) n.993-2581C>T c.919-44C>T (n.919-44C>T) c.325-44C>T (n.325-44C>T) c.319-44C>T (n.319-44C>T) c.-27-44C>T (n.-27-44C>T) c.95-44C>T (n.95-44C>T) c.687-8078C>T (n.687-8078C>T) c.1297-44C>T (n.1297-44C>T) n.2534-44C>T n.995-2581C>T | gnomAD v4 |
| 9 | g.133436786C>A | CA2692370532 | ADAMTS13 | c.1309-43C>A (n.1309-43C>A) c.1216-43C>A (n.1216-43C>A) c.565-43C>A (n.565-43C>A) c.*113-43C>A (n.*113-43C>A) n.974-2580C>A c.*593-43C>A (n.*593-43C>A) n.993-2580C>A c.919-43C>A (n.919-43C>A) c.325-43C>A (n.325-43C>A) c.319-43C>A (n.319-43C>A) c.-27-43C>A (n.-27-43C>A) c.95-43C>A (n.95-43C>A) c.687-8077C>A (n.687-8077C>A) c.1297-43C>A (n.1297-43C>A) n.2534-43C>A n.995-2580C>A | gnomAD v4 |
| 9 | g.133436786C= | CA1882673075 | ADAMTS13 | c.1309-43C= (n.1309-43C=) c.1216-43C= (n.1216-43C=) c.565-43C= (n.565-43C=) c.*113-43C= (n.*113-43C=) n.974-2580C= c.*593-43C= (n.*593-43C=) n.993-2580C= c.919-43C= (n.919-43C=) c.325-43C= (n.325-43C=) c.319-43C= (n.319-43C=) c.-27-43C= (n.-27-43C=) c.95-43C= (n.95-43C=) c.687-8077C= (n.687-8077C=) c.1297-43C= (n.1297-43C=) n.2534-43C= n.995-2580C= | |
| 9 | g.133436786C>G | CA2692370534 | ADAMTS13 | c.1309-43C>G (n.1309-43C>G) c.1216-43C>G (n.1216-43C>G) c.565-43C>G (n.565-43C>G) c.*113-43C>G (n.*113-43C>G) n.974-2580C>G c.*593-43C>G (n.*593-43C>G) n.993-2580C>G c.919-43C>G (n.919-43C>G) c.325-43C>G (n.325-43C>G) c.319-43C>G (n.319-43C>G) c.-27-43C>G (n.-27-43C>G) c.95-43C>G (n.95-43C>G) c.687-8077C>G (n.687-8077C>G) c.1297-43C>G (n.1297-43C>G) n.2534-43C>G n.995-2580C>G | gnomAD v4 |
| 9 | g.133436786C>T | CA200929494 | ADAMTS13 | c.1309-43C>T (n.1309-43C>T) c.1216-43C>T (n.1216-43C>T) c.565-43C>T (n.565-43C>T) c.*113-43C>T (n.*113-43C>T) n.974-2580C>T c.*593-43C>T (n.*593-43C>T) n.993-2580C>T c.919-43C>T (n.919-43C>T) c.325-43C>T (n.325-43C>T) c.319-43C>T (n.319-43C>T) c.-27-43C>T (n.-27-43C>T) c.95-43C>T (n.95-43C>T) c.687-8077C>T (n.687-8077C>T) c.1297-43C>T (n.1297-43C>T) n.2534-43C>T n.995-2580C>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436788_133436789insCCCCCCCCCCCCTCCC | CA2692370531 | ADAMTS13 | c.1309-41_1309-40insCCCCCCCCCCCCTCCC (n.1309-41_1309-40insCCCCCCCCCCCCTCCC) c.1216-41_1216-40insCCCCCCCCCCCCTCCC (n.1216-41_1216-40insCCCCCCCCCCCCTCCC) c.565-41_565-40insCCCCCCCCCCCCTCCC (n.565-41_565-40insCCCCCCCCCCCCTCCC) c.*113-41_*113-40insCCCCCCCCCCCCTCCC (n.*113-41_*113-40insCCCCCCCCCCCCTCCC) n.974-2578_974-2577insCCCCCCCCCCCCTCCC c.*593-41_*593-40insCCCCCCCCCCCCTCCC (n.*593-41_*593-40insCCCCCCCCCCCCTCCC) n.993-2578_993-2577insCCCCCCCCCCCCTCCC c.919-41_919-40insCCCCCCCCCCCCTCCC (n.919-41_919-40insCCCCCCCCCCCCTCCC) c.325-41_325-40insCCCCCCCCCCCCTCCC (n.325-41_325-40insCCCCCCCCCCCCTCCC) c.319-41_319-40insCCCCCCCCCCCCTCCC (n.319-41_319-40insCCCCCCCCCCCCTCCC) c.-27-41_-27-40insCCCCCCCCCCCCTCCC (n.-27-41_-27-40insCCCCCCCCCCCCTCCC) c.95-41_95-40insCCCCCCCCCCCCTCCC (n.95-41_95-40insCCCCCCCCCCCCTCCC) c.687-8075_687-8074insCCCCCCCCCCCCTCCC (n.687-8075_687-8074insCCCCCCCCCCCCTCCC) c.1297-41_1297-40insCCCCCCCCCCCCTCCC (n.1297-41_1297-40insCCCCCCCCCCCCTCCC) n.2534-41_2534-40insCCCCCCCCCCCCTCCC n.995-2578_995-2577insCCCCCCCCCCCCTCCC | gnomAD v4 |
| 9 | g.133436787C>A | CA2692370538 | ADAMTS13 | c.1309-42C>A (n.1309-42C>A) c.1216-42C>A (n.1216-42C>A) c.565-42C>A (n.565-42C>A) c.*113-42C>A (n.*113-42C>A) n.974-2579C>A c.*593-42C>A (n.*593-42C>A) n.993-2579C>A c.919-42C>A (n.919-42C>A) c.325-42C>A (n.325-42C>A) c.319-42C>A (n.319-42C>A) c.-27-42C>A (n.-27-42C>A) c.95-42C>A (n.95-42C>A) c.687-8076C>A (n.687-8076C>A) c.1297-42C>A (n.1297-42C>A) n.2534-42C>A n.995-2579C>A | gnomAD v4 |
| 9 | g.133436787C>G | CA2692370537 | ADAMTS13 | c.1309-42C>G (n.1309-42C>G) c.1216-42C>G (n.1216-42C>G) c.565-42C>G (n.565-42C>G) c.*113-42C>G (n.*113-42C>G) n.974-2579C>G c.*593-42C>G (n.*593-42C>G) n.993-2579C>G c.919-42C>G (n.919-42C>G) c.325-42C>G (n.325-42C>G) c.319-42C>G (n.319-42C>G) c.-27-42C>G (n.-27-42C>G) c.95-42C>G (n.95-42C>G) c.687-8076C>G (n.687-8076C>G) c.1297-42C>G (n.1297-42C>G) n.2534-42C>G n.995-2579C>G | gnomAD v4 |
| 9 | g.133436787C>T | CA2523615753 | ADAMTS13 | c.1309-42C>T (n.1309-42C>T) c.1216-42C>T (n.1216-42C>T) c.565-42C>T (n.565-42C>T) c.*113-42C>T (n.*113-42C>T) n.974-2579C>T c.*593-42C>T (n.*593-42C>T) n.993-2579C>T c.919-42C>T (n.919-42C>T) c.325-42C>T (n.325-42C>T) c.319-42C>T (n.319-42C>T) c.-27-42C>T (n.-27-42C>T) c.95-42C>T (n.95-42C>T) c.687-8076C>T (n.687-8076C>T) c.1297-42C>T (n.1297-42C>T) n.2534-42C>T n.995-2579C>T | gnomAD v4 |
| 9 | g.133436792_133436799del | CA2579500375 | ADAMTS13 | c.1309-37_1309-30del (n.1309-37_1309-30del) c.1216-37_1216-30del (n.1216-37_1216-30del) c.565-37_565-30del (n.565-37_565-30del) c.*113-37_*113-30del (n.*113-37_*113-30del) n.974-2574_974-2567del c.*593-37_*593-30del (n.*593-37_*593-30del) n.993-2574_993-2567del c.919-37_919-30del (n.919-37_919-30del) c.325-37_325-30del (n.325-37_325-30del) c.319-37_319-30del (n.319-37_319-30del) c.-27-37_-27-30del (n.-27-37_-27-30del) c.95-37_95-30del (n.95-37_95-30del) c.687-8071_687-8064del (n.687-8071_687-8064del) c.1297-37_1297-30del (n.1297-37_1297-30del) n.2534-37_2534-30del n.995-2574_995-2567del | gnomAD v4 |
| 9 | g.133436788C>A | CA1129743486 | ADAMTS13 | c.1309-41C>A (n.1309-41C>A) c.1216-41C>A (n.1216-41C>A) c.565-41C>A (n.565-41C>A) c.*113-41C>A (n.*113-41C>A) n.974-2578C>A c.*593-41C>A (n.*593-41C>A) n.993-2578C>A c.919-41C>A (n.919-41C>A) c.325-41C>A (n.325-41C>A) c.319-41C>A (n.319-41C>A) c.-27-41C>A (n.-27-41C>A) c.95-41C>A (n.95-41C>A) c.687-8075C>A (n.687-8075C>A) c.1297-41C>A (n.1297-41C>A) n.2534-41C>A n.995-2578C>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436788C= | CA1882673076 | ADAMTS13 | c.1309-41C= (n.1309-41C=) c.1216-41C= (n.1216-41C=) c.565-41C= (n.565-41C=) c.*113-41C= (n.*113-41C=) n.974-2578C= c.*593-41C= (n.*593-41C=) n.993-2578C= c.919-41C= (n.919-41C=) c.325-41C= (n.325-41C=) c.319-41C= (n.319-41C=) c.-27-41C= (n.-27-41C=) c.95-41C= (n.95-41C=) c.687-8075C= (n.687-8075C=) c.1297-41C= (n.1297-41C=) n.2534-41C= n.995-2578C= | |
| 9 | g.133436788C>G | CA2692370540 | ADAMTS13 | c.1309-41C>G (n.1309-41C>G) c.1216-41C>G (n.1216-41C>G) c.565-41C>G (n.565-41C>G) c.*113-41C>G (n.*113-41C>G) n.974-2578C>G c.*593-41C>G (n.*593-41C>G) n.993-2578C>G c.919-41C>G (n.919-41C>G) c.325-41C>G (n.325-41C>G) c.319-41C>G (n.319-41C>G) c.-27-41C>G (n.-27-41C>G) c.95-41C>G (n.95-41C>G) c.687-8075C>G (n.687-8075C>G) c.1297-41C>G (n.1297-41C>G) n.2534-41C>G n.995-2578C>G | gnomAD v4 |
| 9 | g.133436788C>T | CA200929496 | ADAMTS13 | c.1309-41C>T (n.1309-41C>T) c.1216-41C>T (n.1216-41C>T) c.565-41C>T (n.565-41C>T) c.*113-41C>T (n.*113-41C>T) n.974-2578C>T c.*593-41C>T (n.*593-41C>T) n.993-2578C>T c.919-41C>T (n.919-41C>T) c.325-41C>T (n.325-41C>T) c.319-41C>T (n.319-41C>T) c.-27-41C>T (n.-27-41C>T) c.95-41C>T (n.95-41C>T) c.687-8075C>T (n.687-8075C>T) c.1297-41C>T (n.1297-41C>T) n.2534-41C>T n.995-2578C>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436789_133436790del | CA2579500376 | ADAMTS13 | c.1309-40_1309-39del (n.1309-40_1309-39del) c.1216-40_1216-39del (n.1216-40_1216-39del) c.565-40_565-39del (n.565-40_565-39del) c.*113-40_*113-39del (n.*113-40_*113-39del) n.974-2577_974-2576del c.*593-40_*593-39del (n.*593-40_*593-39del) n.993-2577_993-2576del c.919-40_919-39del (n.919-40_919-39del) c.325-40_325-39del (n.325-40_325-39del) c.319-40_319-39del (n.319-40_319-39del) c.-27-40_-27-39del (n.-27-40_-27-39del) c.95-40_95-39del (n.95-40_95-39del) c.687-8074_687-8073del (n.687-8074_687-8073del) c.1297-40_1297-39del (n.1297-40_1297-39del) n.2534-40_2534-39del n.995-2577_995-2576del | |
| 9 | g.133436788_133436789insCCCCCCCCCCCCA | CA2692370550 | ADAMTS13 | c.1309-41_1309-40insCCCCCCCCCCCCA (n.1309-41_1309-40insCCCCCCCCCCCCA) c.1216-41_1216-40insCCCCCCCCCCCCA (n.1216-41_1216-40insCCCCCCCCCCCCA) c.565-41_565-40insCCCCCCCCCCCCA (n.565-41_565-40insCCCCCCCCCCCCA) c.*113-41_*113-40insCCCCCCCCCCCCA (n.*113-41_*113-40insCCCCCCCCCCCCA) n.974-2578_974-2577insCCCCCCCCCCCCA c.*593-41_*593-40insCCCCCCCCCCCCA (n.*593-41_*593-40insCCCCCCCCCCCCA) n.993-2578_993-2577insCCCCCCCCCCCCA c.919-41_919-40insCCCCCCCCCCCCA (n.919-41_919-40insCCCCCCCCCCCCA) c.325-41_325-40insCCCCCCCCCCCCA (n.325-41_325-40insCCCCCCCCCCCCA) c.319-41_319-40insCCCCCCCCCCCCA (n.319-41_319-40insCCCCCCCCCCCCA) c.-27-41_-27-40insCCCCCCCCCCCCA (n.-27-41_-27-40insCCCCCCCCCCCCA) c.95-41_95-40insCCCCCCCCCCCCA (n.95-41_95-40insCCCCCCCCCCCCA) c.687-8075_687-8074insCCCCCCCCCCCCA (n.687-8075_687-8074insCCCCCCCCCCCCA) c.1297-41_1297-40insCCCCCCCCCCCCA (n.1297-41_1297-40insCCCCCCCCCCCCA) n.2534-41_2534-40insCCCCCCCCCCCCA n.995-2578_995-2577insCCCCCCCCCCCCA | gnomAD v4 |
| 9 | g.133436788_133436789insCCCCCCCCCCCCT | CA2692370549 | ADAMTS13 | c.1309-41_1309-40insCCCCCCCCCCCCT (n.1309-41_1309-40insCCCCCCCCCCCCT) c.1216-41_1216-40insCCCCCCCCCCCCT (n.1216-41_1216-40insCCCCCCCCCCCCT) c.565-41_565-40insCCCCCCCCCCCCT (n.565-41_565-40insCCCCCCCCCCCCT) c.*113-41_*113-40insCCCCCCCCCCCCT (n.*113-41_*113-40insCCCCCCCCCCCCT) n.974-2578_974-2577insCCCCCCCCCCCCT c.*593-41_*593-40insCCCCCCCCCCCCT (n.*593-41_*593-40insCCCCCCCCCCCCT) n.993-2578_993-2577insCCCCCCCCCCCCT c.919-41_919-40insCCCCCCCCCCCCT (n.919-41_919-40insCCCCCCCCCCCCT) c.325-41_325-40insCCCCCCCCCCCCT (n.325-41_325-40insCCCCCCCCCCCCT) c.319-41_319-40insCCCCCCCCCCCCT (n.319-41_319-40insCCCCCCCCCCCCT) c.-27-41_-27-40insCCCCCCCCCCCCT (n.-27-41_-27-40insCCCCCCCCCCCCT) c.95-41_95-40insCCCCCCCCCCCCT (n.95-41_95-40insCCCCCCCCCCCCT) c.687-8075_687-8074insCCCCCCCCCCCCT (n.687-8075_687-8074insCCCCCCCCCCCCT) c.1297-41_1297-40insCCCCCCCCCCCCT (n.1297-41_1297-40insCCCCCCCCCCCCT) n.2534-41_2534-40insCCCCCCCCCCCCT n.995-2578_995-2577insCCCCCCCCCCCCT | gnomAD v4 |
| 9 | g.133436788_133436789insCCCCCCACCCCCCCCCCCCCCCCT | CA2692370552 | ADAMTS13 | c.1309-41_1309-40insCCCCCCACCCCCCCCCCCCCCCCT (n.1309-41_1309-40insCCCCCCACCCCCCCCCCCCCCCCT) c.1216-41_1216-40insCCCCCCACCCCCCCCCCCCCCCCT (n.1216-41_1216-40insCCCCCCACCCCCCCCCCCCCCCCT) c.565-41_565-40insCCCCCCACCCCCCCCCCCCCCCCT (n.565-41_565-40insCCCCCCACCCCCCCCCCCCCCCCT) c.*113-41_*113-40insCCCCCCACCCCCCCCCCCCCCCCT (n.*113-41_*113-40insCCCCCCACCCCCCCCCCCCCCCCT) n.974-2578_974-2577insCCCCCCACCCCCCCCCCCCCCCCT c.*593-41_*593-40insCCCCCCACCCCCCCCCCCCCCCCT (n.*593-41_*593-40insCCCCCCACCCCCCCCCCCCCCCCT) n.993-2578_993-2577insCCCCCCACCCCCCCCCCCCCCCCT c.919-41_919-40insCCCCCCACCCCCCCCCCCCCCCCT (n.919-41_919-40insCCCCCCACCCCCCCCCCCCCCCCT) c.325-41_325-40insCCCCCCACCCCCCCCCCCCCCCCT (n.325-41_325-40insCCCCCCACCCCCCCCCCCCCCCCT) c.319-41_319-40insCCCCCCACCCCCCCCCCCCCCCCT (n.319-41_319-40insCCCCCCACCCCCCCCCCCCCCCCT) c.-27-41_-27-40insCCCCCCACCCCCCCCCCCCCCCCT (n.-27-41_-27-40insCCCCCCACCCCCCCCCCCCCCCCT) c.95-41_95-40insCCCCCCACCCCCCCCCCCCCCCCT (n.95-41_95-40insCCCCCCACCCCCCCCCCCCCCCCT) c.687-8075_687-8074insCCCCCCACCCCCCCCCCCCCCCCT (n.687-8075_687-8074insCCCCCCACCCCCCCCCCCCCCCCT) c.1297-41_1297-40insCCCCCCACCCCCCCCCCCCCCCCT (n.1297-41_1297-40insCCCCCCACCCCCCCCCCCCCCCCT) n.2534-41_2534-40insCCCCCCACCCCCCCCCCCCCCCCT n.995-2578_995-2577insCCCCCCACCCCCCCCCCCCCCCCT | gnomAD v4 |
| 9 | g.133436789del | CA860755366 | ADAMTS13 | c.1309-40del (n.1309-40del) c.1216-40del (n.1216-40del) c.565-40del (n.565-40del) c.*113-40del (n.*113-40del) n.974-2577del c.*593-40del (n.*593-40del) n.993-2577del c.919-40del (n.919-40del) c.325-40del (n.325-40del) c.319-40del (n.319-40del) c.-27-40del (n.-27-40del) c.95-40del (n.95-40del) c.687-8074del (n.687-8074del) c.1297-40del (n.1297-40del) n.2534-40del n.995-2577del | gnomAD v4 |
| 9 | g.133436789G>A | CA860755367 | ADAMTS13 | c.1309-40G>A (n.1309-40G>A) c.1216-40G>A (n.1216-40G>A) c.565-40G>A (n.565-40G>A) c.*113-40G>A (n.*113-40G>A) n.974-2577G>A c.*593-40G>A (n.*593-40G>A) n.993-2577G>A c.919-40G>A (n.919-40G>A) c.325-40G>A (n.325-40G>A) c.319-40G>A (n.319-40G>A) c.-27-40G>A (n.-27-40G>A) c.95-40G>A (n.95-40G>A) c.687-8074G>A (n.687-8074G>A) c.1297-40G>A (n.1297-40G>A) n.2534-40G>A n.995-2577G>A | dbSNP gnomAD v4 |
| 9 | g.133436789G>C | CA200929501 | ADAMTS13 | c.1309-40G>C (n.1309-40G>C) c.1216-40G>C (n.1216-40G>C) c.565-40G>C (n.565-40G>C) c.*113-40G>C (n.*113-40G>C) n.974-2577G>C c.*593-40G>C (n.*593-40G>C) n.993-2577G>C c.919-40G>C (n.919-40G>C) c.325-40G>C (n.325-40G>C) c.319-40G>C (n.319-40G>C) c.-27-40G>C (n.-27-40G>C) c.95-40G>C (n.95-40G>C) c.687-8074G>C (n.687-8074G>C) c.1297-40G>C (n.1297-40G>C) n.2534-40G>C n.995-2577G>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436789G= | CA1882673077 | ADAMTS13 | c.1309-40G= (n.1309-40G=) c.1216-40G= (n.1216-40G=) c.565-40G= (n.565-40G=) c.*113-40G= (n.*113-40G=) n.974-2577G= c.*593-40G= (n.*593-40G=) n.993-2577G= c.919-40G= (n.919-40G=) c.325-40G= (n.325-40G=) c.319-40G= (n.319-40G=) c.-27-40G= (n.-27-40G=) c.95-40G= (n.95-40G=) c.687-8074G= (n.687-8074G=) c.1297-40G= (n.1297-40G=) n.2534-40G= n.995-2577G= | |
| 9 | g.133436789G>T | CA2692370547 | ADAMTS13 | c.1309-40G>T (n.1309-40G>T) c.1216-40G>T (n.1216-40G>T) c.565-40G>T (n.565-40G>T) c.*113-40G>T (n.*113-40G>T) n.974-2577G>T c.*593-40G>T (n.*593-40G>T) n.993-2577G>T c.919-40G>T (n.919-40G>T) c.325-40G>T (n.325-40G>T) c.319-40G>T (n.319-40G>T) c.-27-40G>T (n.-27-40G>T) c.95-40G>T (n.95-40G>T) c.687-8074G>T (n.687-8074G>T) c.1297-40G>T (n.1297-40G>T) n.2534-40G>T n.995-2577G>T | gnomAD v4 |
| 9 | g.133436789_133436790insGG | CA2692370553 | ADAMTS13 | c.1309-40_1309-39insGG (n.1309-40_1309-39insGG) c.1216-40_1216-39insGG (n.1216-40_1216-39insGG) c.565-40_565-39insGG (n.565-40_565-39insGG) c.*113-40_*113-39insGG (n.*113-40_*113-39insGG) n.974-2577_974-2576insGG c.*593-40_*593-39insGG (n.*593-40_*593-39insGG) n.993-2577_993-2576insGG c.919-40_919-39insGG (n.919-40_919-39insGG) c.325-40_325-39insGG (n.325-40_325-39insGG) c.319-40_319-39insGG (n.319-40_319-39insGG) c.-27-40_-27-39insGG (n.-27-40_-27-39insGG) c.95-40_95-39insGG (n.95-40_95-39insGG) c.687-8074_687-8073insGG (n.687-8074_687-8073insGG) c.1297-40_1297-39insGG (n.1297-40_1297-39insGG) n.2534-40_2534-39insGG n.995-2577_995-2576insGG | gnomAD v4 |
| 9 | g.133436790C>A | CA2692370561 | ADAMTS13 | c.1309-39C>A (n.1309-39C>A) c.1216-39C>A (n.1216-39C>A) c.565-39C>A (n.565-39C>A) c.*113-39C>A (n.*113-39C>A) n.974-2576C>A c.*593-39C>A (n.*593-39C>A) n.993-2576C>A c.919-39C>A (n.919-39C>A) c.325-39C>A (n.325-39C>A) c.319-39C>A (n.319-39C>A) c.-27-39C>A (n.-27-39C>A) c.95-39C>A (n.95-39C>A) c.687-8073C>A (n.687-8073C>A) c.1297-39C>A (n.1297-39C>A) n.2534-39C>A n.995-2576C>A | gnomAD v4 |
| 9 | g.133436790C>G | CA2692370562 | ADAMTS13 | c.1309-39C>G (n.1309-39C>G) c.1216-39C>G (n.1216-39C>G) c.565-39C>G (n.565-39C>G) c.*113-39C>G (n.*113-39C>G) n.974-2576C>G c.*593-39C>G (n.*593-39C>G) n.993-2576C>G c.919-39C>G (n.919-39C>G) c.325-39C>G (n.325-39C>G) c.319-39C>G (n.319-39C>G) c.-27-39C>G (n.-27-39C>G) c.95-39C>G (n.95-39C>G) c.687-8073C>G (n.687-8073C>G) c.1297-39C>G (n.1297-39C>G) n.2534-39C>G n.995-2576C>G | gnomAD v4 |
| 9 | g.133436790C>T | CA2579500377 | ADAMTS13 | c.1309-39C>T (n.1309-39C>T) c.1216-39C>T (n.1216-39C>T) c.565-39C>T (n.565-39C>T) c.*113-39C>T (n.*113-39C>T) n.974-2576C>T c.*593-39C>T (n.*593-39C>T) n.993-2576C>T c.919-39C>T (n.919-39C>T) c.325-39C>T (n.325-39C>T) c.319-39C>T (n.319-39C>T) c.-27-39C>T (n.-27-39C>T) c.95-39C>T (n.95-39C>T) c.687-8073C>T (n.687-8073C>T) c.1297-39C>T (n.1297-39C>T) n.2534-39C>T n.995-2576C>T | gnomAD v4 |
| 9 | g.133436793_133436794insCCCCCC | CA2503319907 | ADAMTS13 | c.1309-36_1309-35insCCCCCC (n.1309-36_1309-35insCCCCCC) c.1216-36_1216-35insCCCCCC (n.1216-36_1216-35insCCCCCC) c.565-36_565-35insCCCCCC (n.565-36_565-35insCCCCCC) c.*113-36_*113-35insCCCCCC (n.*113-36_*113-35insCCCCCC) n.974-2573_974-2572insCCCCCC c.*593-36_*593-35insCCCCCC (n.*593-36_*593-35insCCCCCC) n.993-2573_993-2572insCCCCCC c.919-36_919-35insCCCCCC (n.919-36_919-35insCCCCCC) c.325-36_325-35insCCCCCC (n.325-36_325-35insCCCCCC) c.319-36_319-35insCCCCCC (n.319-36_319-35insCCCCCC) c.-27-36_-27-35insCCCCCC (n.-27-36_-27-35insCCCCCC) c.95-36_95-35insCCCCCC (n.95-36_95-35insCCCCCC) c.687-8070_687-8069insCCCCCC (n.687-8070_687-8069insCCCCCC) c.1297-36_1297-35insCCCCCC (n.1297-36_1297-35insCCCCCC) n.2534-36_2534-35insCCCCCC n.995-2573_995-2572insCCCCCC | gnomAD v4 |
| 9 | g.133436793_133436794insCCCCCCC | CA2692370558 | ADAMTS13 | c.1309-36_1309-35insCCCCCCC (n.1309-36_1309-35insCCCCCCC) c.1216-36_1216-35insCCCCCCC (n.1216-36_1216-35insCCCCCCC) c.565-36_565-35insCCCCCCC (n.565-36_565-35insCCCCCCC) c.*113-36_*113-35insCCCCCCC (n.*113-36_*113-35insCCCCCCC) n.974-2573_974-2572insCCCCCCC c.*593-36_*593-35insCCCCCCC (n.*593-36_*593-35insCCCCCCC) n.993-2573_993-2572insCCCCCCC c.919-36_919-35insCCCCCCC (n.919-36_919-35insCCCCCCC) c.325-36_325-35insCCCCCCC (n.325-36_325-35insCCCCCCC) c.319-36_319-35insCCCCCCC (n.319-36_319-35insCCCCCCC) c.-27-36_-27-35insCCCCCCC (n.-27-36_-27-35insCCCCCCC) c.95-36_95-35insCCCCCCC (n.95-36_95-35insCCCCCCC) c.687-8070_687-8069insCCCCCCC (n.687-8070_687-8069insCCCCCCC) c.1297-36_1297-35insCCCCCCC (n.1297-36_1297-35insCCCCCCC) n.2534-36_2534-35insCCCCCCC n.995-2573_995-2572insCCCCCCC | gnomAD v4 |
| 9 | g.133436793_133436794insCCCCCCCCCCCCCC | CA860755369 | ADAMTS13 | c.1309-36_1309-35insCCCCCCCCCCCCCC (n.1309-36_1309-35insCCCCCCCCCCCCCC) c.1216-36_1216-35insCCCCCCCCCCCCCC (n.1216-36_1216-35insCCCCCCCCCCCCCC) c.565-36_565-35insCCCCCCCCCCCCCC (n.565-36_565-35insCCCCCCCCCCCCCC) c.*113-36_*113-35insCCCCCCCCCCCCCC (n.*113-36_*113-35insCCCCCCCCCCCCCC) n.974-2573_974-2572insCCCCCCCCCCCCCC c.*593-36_*593-35insCCCCCCCCCCCCCC (n.*593-36_*593-35insCCCCCCCCCCCCCC) n.993-2573_993-2572insCCCCCCCCCCCCCC c.919-36_919-35insCCCCCCCCCCCCCC (n.919-36_919-35insCCCCCCCCCCCCCC) c.325-36_325-35insCCCCCCCCCCCCCC (n.325-36_325-35insCCCCCCCCCCCCCC) c.319-36_319-35insCCCCCCCCCCCCCC (n.319-36_319-35insCCCCCCCCCCCCCC) c.-27-36_-27-35insCCCCCCCCCCCCCC (n.-27-36_-27-35insCCCCCCCCCCCCCC) c.95-36_95-35insCCCCCCCCCCCCCC (n.95-36_95-35insCCCCCCCCCCCCCC) c.687-8070_687-8069insCCCCCCCCCCCCCC (n.687-8070_687-8069insCCCCCCCCCCCCCC) c.1297-36_1297-35insCCCCCCCCCCCCCC (n.1297-36_1297-35insCCCCCCCCCCCCCC) n.2534-36_2534-35insCCCCCCCCCCCCCC n.995-2573_995-2572insCCCCCCCCCCCCCC | |
| 9 | g.133436793dup | CA2529477071 | ADAMTS13 | c.1309-36dup (n.1309-36dup) c.1216-36dup (n.1216-36dup) c.565-36dup (n.565-36dup) c.*113-36dup (n.*113-36dup) n.974-2573dup c.*593-36dup (n.*593-36dup) n.993-2573dup c.919-36dup (n.919-36dup) c.325-36dup (n.325-36dup) c.319-36dup (n.319-36dup) c.-27-36dup (n.-27-36dup) c.95-36dup (n.95-36dup) c.687-8070dup (n.687-8070dup) c.1297-36dup (n.1297-36dup) n.2534-36dup n.995-2573dup | gnomAD v4 |
| 9 | g.133436793del | CA2692370560 | ADAMTS13 | c.1309-36del (n.1309-36del) c.1216-36del (n.1216-36del) c.565-36del (n.565-36del) c.*113-36del (n.*113-36del) n.974-2573del c.*593-36del (n.*593-36del) n.993-2573del c.919-36del (n.919-36del) c.325-36del (n.325-36del) c.319-36del (n.319-36del) c.-27-36del (n.-27-36del) c.95-36del (n.95-36del) c.687-8070del (n.687-8070del) c.1297-36del (n.1297-36del) n.2534-36del n.995-2573del | gnomAD v4 |
| 9 | g.133436790_133436822del | CA2786169569 | ADAMTS13 | c.1309-39_1309-7del (n.1309-39_1309-7del) c.1216-39_1216-7del (n.1216-39_1216-7del) c.565-39_565-7del (n.565-39_565-7del) c.*113-39_*113-7del (n.*113-39_*113-7del) n.974-2576_974-2544del c.*593-39_*593-7del (n.*593-39_*593-7del) n.993-2576_993-2544del c.919-39_919-7del (n.919-39_919-7del) c.325-39_325-7del (n.325-39_325-7del) c.319-39_319-7del (n.319-39_319-7del) c.-27-39_-27-7del (n.-27-39_-27-7del) c.95-39_95-7del (n.95-39_95-7del) c.687-8073_687-8041del (n.687-8073_687-8041del) c.1297-39_1297-7del (n.1297-39_1297-7del) n.2534-39_2534-7del n.995-2576_995-2544del | |
| 9 | g.133436791C>A | CA860755371 | ADAMTS13 | c.1309-38C>A (n.1309-38C>A) c.1216-38C>A (n.1216-38C>A) c.565-38C>A (n.565-38C>A) c.*113-38C>A (n.*113-38C>A) n.974-2575C>A c.*593-38C>A (n.*593-38C>A) n.993-2575C>A c.919-38C>A (n.919-38C>A) c.325-38C>A (n.325-38C>A) c.319-38C>A (n.319-38C>A) c.-27-38C>A (n.-27-38C>A) c.95-38C>A (n.95-38C>A) c.687-8072C>A (n.687-8072C>A) c.1297-38C>A (n.1297-38C>A) n.2534-38C>A n.995-2575C>A | dbSNP gnomAD v4 |
| 9 | g.133436791C= | CA1882673078 | ADAMTS13 | c.1309-38C= (n.1309-38C=) c.1216-38C= (n.1216-38C=) c.565-38C= (n.565-38C=) c.*113-38C= (n.*113-38C=) n.974-2575C= c.*593-38C= (n.*593-38C=) n.993-2575C= c.919-38C= (n.919-38C=) c.325-38C= (n.325-38C=) c.319-38C= (n.319-38C=) c.-27-38C= (n.-27-38C=) c.95-38C= (n.95-38C=) c.687-8072C= (n.687-8072C=) c.1297-38C= (n.1297-38C=) n.2534-38C= n.995-2575C= | |
| 9 | g.133436791C>G | CA2692370570 | ADAMTS13 | c.1309-38C>G (n.1309-38C>G) c.1216-38C>G (n.1216-38C>G) c.565-38C>G (n.565-38C>G) c.*113-38C>G (n.*113-38C>G) n.974-2575C>G c.*593-38C>G (n.*593-38C>G) n.993-2575C>G c.919-38C>G (n.919-38C>G) c.325-38C>G (n.325-38C>G) c.319-38C>G (n.319-38C>G) c.-27-38C>G (n.-27-38C>G) c.95-38C>G (n.95-38C>G) c.687-8072C>G (n.687-8072C>G) c.1297-38C>G (n.1297-38C>G) n.2534-38C>G n.995-2575C>G | gnomAD v4 |
| 9 | g.133436791C>T | CA2692370569 | ADAMTS13 | c.1309-38C>T (n.1309-38C>T) c.1216-38C>T (n.1216-38C>T) c.565-38C>T (n.565-38C>T) c.*113-38C>T (n.*113-38C>T) n.974-2575C>T c.*593-38C>T (n.*593-38C>T) n.993-2575C>T c.919-38C>T (n.919-38C>T) c.325-38C>T (n.325-38C>T) c.319-38C>T (n.319-38C>T) c.-27-38C>T (n.-27-38C>T) c.95-38C>T (n.95-38C>T) c.687-8072C>T (n.687-8072C>T) c.1297-38C>T (n.1297-38C>T) n.2534-38C>T n.995-2575C>T | gnomAD v4 |
| 9 | g.133436792C>A | CA2579500378 | ADAMTS13 | c.1309-37C>A (n.1309-37C>A) c.1216-37C>A (n.1216-37C>A) c.565-37C>A (n.565-37C>A) c.*113-37C>A (n.*113-37C>A) n.974-2574C>A c.*593-37C>A (n.*593-37C>A) n.993-2574C>A c.919-37C>A (n.919-37C>A) c.325-37C>A (n.325-37C>A) c.319-37C>A (n.319-37C>A) c.-27-37C>A (n.-27-37C>A) c.95-37C>A (n.95-37C>A) c.687-8071C>A (n.687-8071C>A) c.1297-37C>A (n.1297-37C>A) n.2534-37C>A n.995-2574C>A | gnomAD v4 |
| 9 | g.133436792C>T | CA2692370576 | ADAMTS13 | c.1309-37C>T (n.1309-37C>T) c.1216-37C>T (n.1216-37C>T) c.565-37C>T (n.565-37C>T) c.*113-37C>T (n.*113-37C>T) n.974-2574C>T c.*593-37C>T (n.*593-37C>T) n.993-2574C>T c.919-37C>T (n.919-37C>T) c.325-37C>T (n.325-37C>T) c.319-37C>T (n.319-37C>T) c.-27-37C>T (n.-27-37C>T) c.95-37C>T (n.95-37C>T) c.687-8071C>T (n.687-8071C>T) c.1297-37C>T (n.1297-37C>T) n.2534-37C>T n.995-2574C>T | gnomAD v4 |
| 9 | g.133436793C>A | CA2543770815 | ADAMTS13 | c.1309-36C>A (n.1309-36C>A) c.1216-36C>A (n.1216-36C>A) c.565-36C>A (n.565-36C>A) c.*113-36C>A (n.*113-36C>A) n.974-2573C>A c.*593-36C>A (n.*593-36C>A) n.993-2573C>A c.919-36C>A (n.919-36C>A) c.325-36C>A (n.325-36C>A) c.319-36C>A (n.319-36C>A) c.-27-36C>A (n.-27-36C>A) c.95-36C>A (n.95-36C>A) c.687-8070C>A (n.687-8070C>A) c.1297-36C>A (n.1297-36C>A) n.2534-36C>A n.995-2573C>A | gnomAD v4 |
| 9 | g.133436793C= | CA1882673079 | ADAMTS13 | c.1309-36C= (n.1309-36C=) c.1216-36C= (n.1216-36C=) c.565-36C= (n.565-36C=) c.*113-36C= (n.*113-36C=) n.974-2573C= c.*593-36C= (n.*593-36C=) n.993-2573C= c.919-36C= (n.919-36C=) c.325-36C= (n.325-36C=) c.319-36C= (n.319-36C=) c.-27-36C= (n.-27-36C=) c.95-36C= (n.95-36C=) c.687-8070C= (n.687-8070C=) c.1297-36C= (n.1297-36C=) n.2534-36C= n.995-2573C= | |
| 9 | g.133436793C>T | CA860755372 | ADAMTS13 | c.1309-36C>T (n.1309-36C>T) c.1216-36C>T (n.1216-36C>T) c.565-36C>T (n.565-36C>T) c.*113-36C>T (n.*113-36C>T) n.974-2573C>T c.*593-36C>T (n.*593-36C>T) n.993-2573C>T c.919-36C>T (n.919-36C>T) c.325-36C>T (n.325-36C>T) c.319-36C>T (n.319-36C>T) c.-27-36C>T (n.-27-36C>T) c.95-36C>T (n.95-36C>T) c.687-8070C>T (n.687-8070C>T) c.1297-36C>T (n.1297-36C>T) n.2534-36C>T n.995-2573C>T | dbSNP gnomAD v4 |
| 9 | g.133436793_133436794insCCCCCCCA | CA2692370596 | ADAMTS13 | c.1309-36_1309-35insCCCCCCCA (n.1309-36_1309-35insCCCCCCCA) c.1216-36_1216-35insCCCCCCCA (n.1216-36_1216-35insCCCCCCCA) c.565-36_565-35insCCCCCCCA (n.565-36_565-35insCCCCCCCA) c.*113-36_*113-35insCCCCCCCA (n.*113-36_*113-35insCCCCCCCA) n.974-2573_974-2572insCCCCCCCA c.*593-36_*593-35insCCCCCCCA (n.*593-36_*593-35insCCCCCCCA) n.993-2573_993-2572insCCCCCCCA c.919-36_919-35insCCCCCCCA (n.919-36_919-35insCCCCCCCA) c.325-36_325-35insCCCCCCCA (n.325-36_325-35insCCCCCCCA) c.319-36_319-35insCCCCCCCA (n.319-36_319-35insCCCCCCCA) c.-27-36_-27-35insCCCCCCCA (n.-27-36_-27-35insCCCCCCCA) c.95-36_95-35insCCCCCCCA (n.95-36_95-35insCCCCCCCA) c.687-8070_687-8069insCCCCCCCA (n.687-8070_687-8069insCCCCCCCA) c.1297-36_1297-35insCCCCCCCA (n.1297-36_1297-35insCCCCCCCA) n.2534-36_2534-35insCCCCCCCA n.995-2573_995-2572insCCCCCCCA | gnomAD v4 |
| 9 | g.133436793_133436794insCCCCCCCT | CA860755377 | ADAMTS13 | c.1309-36_1309-35insCCCCCCCT (n.1309-36_1309-35insCCCCCCCT) c.1216-36_1216-35insCCCCCCCT (n.1216-36_1216-35insCCCCCCCT) c.565-36_565-35insCCCCCCCT (n.565-36_565-35insCCCCCCCT) c.*113-36_*113-35insCCCCCCCT (n.*113-36_*113-35insCCCCCCCT) n.974-2573_974-2572insCCCCCCCT c.*593-36_*593-35insCCCCCCCT (n.*593-36_*593-35insCCCCCCCT) n.993-2573_993-2572insCCCCCCCT c.919-36_919-35insCCCCCCCT (n.919-36_919-35insCCCCCCCT) c.325-36_325-35insCCCCCCCT (n.325-36_325-35insCCCCCCCT) c.319-36_319-35insCCCCCCCT (n.319-36_319-35insCCCCCCCT) c.-27-36_-27-35insCCCCCCCT (n.-27-36_-27-35insCCCCCCCT) c.95-36_95-35insCCCCCCCT (n.95-36_95-35insCCCCCCCT) c.687-8070_687-8069insCCCCCCCT (n.687-8070_687-8069insCCCCCCCT) c.1297-36_1297-35insCCCCCCCT (n.1297-36_1297-35insCCCCCCCT) n.2534-36_2534-35insCCCCCCCT n.995-2573_995-2572insCCCCCCCT | |
| 9 | g.133436794del | CA2692370597 | ADAMTS13 | c.1309-35del (n.1309-35del) c.1216-35del (n.1216-35del) c.565-35del (n.565-35del) c.*113-35del (n.*113-35del) n.974-2572del c.*593-35del (n.*593-35del) n.993-2572del c.919-35del (n.919-35del) c.325-35del (n.325-35del) c.319-35del (n.319-35del) c.-27-35del (n.-27-35del) c.95-35del (n.95-35del) c.687-8069del (n.687-8069del) c.1297-35del (n.1297-35del) n.2534-35del n.995-2572del | gnomAD v4 |
| 9 | g.133436794A= | CA1882673080 | ADAMTS13 | c.1309-35A= (n.1309-35A=) c.1216-35A= (n.1216-35A=) c.565-35A= (n.565-35A=) c.*113-35A= (n.*113-35A=) n.974-2572A= c.*593-35A= (n.*593-35A=) n.993-2572A= c.919-35A= (n.919-35A=) c.325-35A= (n.325-35A=) c.319-35A= (n.319-35A=) c.-27-35A= (n.-27-35A=) c.95-35A= (n.95-35A=) c.687-8069A= (n.687-8069A=) c.1297-35A= (n.1297-35A=) n.2534-35A= n.995-2572A= | |
| 9 | g.133436794A>C | CA860755374 | ADAMTS13 | c.1309-35A>C (n.1309-35A>C) c.1216-35A>C (n.1216-35A>C) c.565-35A>C (n.565-35A>C) c.*113-35A>C (n.*113-35A>C) n.974-2572A>C c.*593-35A>C (n.*593-35A>C) n.993-2572A>C c.919-35A>C (n.919-35A>C) c.325-35A>C (n.325-35A>C) c.319-35A>C (n.319-35A>C) c.-27-35A>C (n.-27-35A>C) c.95-35A>C (n.95-35A>C) c.687-8069A>C (n.687-8069A>C) c.1297-35A>C (n.1297-35A>C) n.2534-35A>C n.995-2572A>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436794A>G | CA2692370592 | ADAMTS13 | c.1309-35A>G (n.1309-35A>G) c.1216-35A>G (n.1216-35A>G) c.565-35A>G (n.565-35A>G) c.*113-35A>G (n.*113-35A>G) n.974-2572A>G c.*593-35A>G (n.*593-35A>G) n.993-2572A>G c.919-35A>G (n.919-35A>G) c.325-35A>G (n.325-35A>G) c.319-35A>G (n.319-35A>G) c.-27-35A>G (n.-27-35A>G) c.95-35A>G (n.95-35A>G) c.687-8069A>G (n.687-8069A>G) c.1297-35A>G (n.1297-35A>G) n.2534-35A>G n.995-2572A>G | gnomAD v4 |
| 9 | g.133436794A>T | CA2692370589 | ADAMTS13 | c.1309-35A>T (n.1309-35A>T) c.1216-35A>T (n.1216-35A>T) c.565-35A>T (n.565-35A>T) c.*113-35A>T (n.*113-35A>T) n.974-2572A>T c.*593-35A>T (n.*593-35A>T) n.993-2572A>T c.919-35A>T (n.919-35A>T) c.325-35A>T (n.325-35A>T) c.319-35A>T (n.319-35A>T) c.-27-35A>T (n.-27-35A>T) c.95-35A>T (n.95-35A>T) c.687-8069A>T (n.687-8069A>T) c.1297-35A>T (n.1297-35A>T) n.2534-35A>T n.995-2572A>T | gnomAD v4 |
| 9 | g.133436794_133436797del | CA860755379 | ADAMTS13 | c.1309-35_1309-32del (n.1309-35_1309-32del) c.1216-35_1216-32del (n.1216-35_1216-32del) c.565-35_565-32del (n.565-35_565-32del) c.*113-35_*113-32del (n.*113-35_*113-32del) n.974-2572_974-2569del c.*593-35_*593-32del (n.*593-35_*593-32del) n.993-2572_993-2569del c.919-35_919-32del (n.919-35_919-32del) c.325-35_325-32del (n.325-35_325-32del) c.319-35_319-32del (n.319-35_319-32del) c.-27-35_-27-32del (n.-27-35_-27-32del) c.95-35_95-32del (n.95-35_95-32del) c.687-8069_687-8066del (n.687-8069_687-8066del) c.1297-35_1297-32del (n.1297-35_1297-32del) n.2534-35_2534-32del n.995-2572_995-2569del | gnomAD v4 |
| 9 | g.133436794_133436801del | CA2692370598 | ADAMTS13 | c.1309-35_1309-28del (n.1309-35_1309-28del) c.1216-35_1216-28del (n.1216-35_1216-28del) c.565-35_565-28del (n.565-35_565-28del) c.*113-35_*113-28del (n.*113-35_*113-28del) n.974-2572_974-2565del c.*593-35_*593-28del (n.*593-35_*593-28del) n.993-2572_993-2565del c.919-35_919-28del (n.919-35_919-28del) c.325-35_325-28del (n.325-35_325-28del) c.319-35_319-28del (n.319-35_319-28del) c.-27-35_-27-28del (n.-27-35_-27-28del) c.95-35_95-28del (n.95-35_95-28del) c.687-8069_687-8062del (n.687-8069_687-8062del) c.1297-35_1297-28del (n.1297-35_1297-28del) n.2534-35_2534-28del n.995-2572_995-2565del | gnomAD v4 |
| 9 | g.133436795C>A | CA2579500379 | ADAMTS13 | c.1309-34C>A (n.1309-34C>A) c.1216-34C>A (n.1216-34C>A) c.565-34C>A (n.565-34C>A) c.*113-34C>A (n.*113-34C>A) n.974-2571C>A c.*593-34C>A (n.*593-34C>A) n.993-2571C>A c.919-34C>A (n.919-34C>A) c.325-34C>A (n.325-34C>A) c.319-34C>A (n.319-34C>A) c.-27-34C>A (n.-27-34C>A) c.95-34C>A (n.95-34C>A) c.687-8068C>A (n.687-8068C>A) c.1297-34C>A (n.1297-34C>A) n.2534-34C>A n.995-2571C>A | gnomAD v4 |
| 9 | g.133436795C>G | CA2692370606 | ADAMTS13 | c.1309-34C>G (n.1309-34C>G) c.1216-34C>G (n.1216-34C>G) c.565-34C>G (n.565-34C>G) c.*113-34C>G (n.*113-34C>G) n.974-2571C>G c.*593-34C>G (n.*593-34C>G) n.993-2571C>G c.919-34C>G (n.919-34C>G) c.325-34C>G (n.325-34C>G) c.319-34C>G (n.319-34C>G) c.-27-34C>G (n.-27-34C>G) c.95-34C>G (n.95-34C>G) c.687-8068C>G (n.687-8068C>G) c.1297-34C>G (n.1297-34C>G) n.2534-34C>G n.995-2571C>G | gnomAD v4 |
| 9 | g.133436795C>T | CA2692370605 | ADAMTS13 | c.1309-34C>T (n.1309-34C>T) c.1216-34C>T (n.1216-34C>T) c.565-34C>T (n.565-34C>T) c.*113-34C>T (n.*113-34C>T) n.974-2571C>T c.*593-34C>T (n.*593-34C>T) n.993-2571C>T c.919-34C>T (n.919-34C>T) c.325-34C>T (n.325-34C>T) c.319-34C>T (n.319-34C>T) c.-27-34C>T (n.-27-34C>T) c.95-34C>T (n.95-34C>T) c.687-8068C>T (n.687-8068C>T) c.1297-34C>T (n.1297-34C>T) n.2534-34C>T n.995-2571C>T | gnomAD v4 |
| 9 | g.133436796_133436797insCCC | CA2692370604 | ADAMTS13 | c.1309-33_1309-32insCCC (n.1309-33_1309-32insCCC) c.1216-33_1216-32insCCC (n.1216-33_1216-32insCCC) c.565-33_565-32insCCC (n.565-33_565-32insCCC) c.*113-33_*113-32insCCC (n.*113-33_*113-32insCCC) n.974-2570_974-2569insCCC c.*593-33_*593-32insCCC (n.*593-33_*593-32insCCC) n.993-2570_993-2569insCCC c.919-33_919-32insCCC (n.919-33_919-32insCCC) c.325-33_325-32insCCC (n.325-33_325-32insCCC) c.319-33_319-32insCCC (n.319-33_319-32insCCC) c.-27-33_-27-32insCCC (n.-27-33_-27-32insCCC) c.95-33_95-32insCCC (n.95-33_95-32insCCC) c.687-8067_687-8066insCCC (n.687-8067_687-8066insCCC) c.1297-33_1297-32insCCC (n.1297-33_1297-32insCCC) n.2534-33_2534-32insCCC n.995-2570_995-2569insCCC | gnomAD v4 |
| 9 | g.133436796_133436797insCCCC | CA2692370614 | ADAMTS13 | c.1309-33_1309-32insCCCC (n.1309-33_1309-32insCCCC) c.1216-33_1216-32insCCCC (n.1216-33_1216-32insCCCC) c.565-33_565-32insCCCC (n.565-33_565-32insCCCC) c.*113-33_*113-32insCCCC (n.*113-33_*113-32insCCCC) n.974-2570_974-2569insCCCC c.*593-33_*593-32insCCCC (n.*593-33_*593-32insCCCC) n.993-2570_993-2569insCCCC c.919-33_919-32insCCCC (n.919-33_919-32insCCCC) c.325-33_325-32insCCCC (n.325-33_325-32insCCCC) c.319-33_319-32insCCCC (n.319-33_319-32insCCCC) c.-27-33_-27-32insCCCC (n.-27-33_-27-32insCCCC) c.95-33_95-32insCCCC (n.95-33_95-32insCCCC) c.687-8067_687-8066insCCCC (n.687-8067_687-8066insCCCC) c.1297-33_1297-32insCCCC (n.1297-33_1297-32insCCCC) n.2534-33_2534-32insCCCC n.995-2570_995-2569insCCCC | gnomAD v4 |
| 9 | g.133436796_133436797insCCCCC | CA2786169573 | ADAMTS13 | c.1309-33_1309-32insCCCCC (n.1309-33_1309-32insCCCCC) c.1216-33_1216-32insCCCCC (n.1216-33_1216-32insCCCCC) c.565-33_565-32insCCCCC (n.565-33_565-32insCCCCC) c.*113-33_*113-32insCCCCC (n.*113-33_*113-32insCCCCC) n.974-2570_974-2569insCCCCC c.*593-33_*593-32insCCCCC (n.*593-33_*593-32insCCCCC) n.993-2570_993-2569insCCCCC c.919-33_919-32insCCCCC (n.919-33_919-32insCCCCC) c.325-33_325-32insCCCCC (n.325-33_325-32insCCCCC) c.319-33_319-32insCCCCC (n.319-33_319-32insCCCCC) c.-27-33_-27-32insCCCCC (n.-27-33_-27-32insCCCCC) c.95-33_95-32insCCCCC (n.95-33_95-32insCCCCC) c.687-8067_687-8066insCCCCC (n.687-8067_687-8066insCCCCC) c.1297-33_1297-32insCCCCC (n.1297-33_1297-32insCCCCC) n.2534-33_2534-32insCCCCC n.995-2570_995-2569insCCCCC | |
| 9 | g.133436796_133436797insCCCCCCCCCC | CA2692370613 | ADAMTS13 | c.1309-33_1309-32insCCCCCCCCCC (n.1309-33_1309-32insCCCCCCCCCC) c.1216-33_1216-32insCCCCCCCCCC (n.1216-33_1216-32insCCCCCCCCCC) c.565-33_565-32insCCCCCCCCCC (n.565-33_565-32insCCCCCCCCCC) c.*113-33_*113-32insCCCCCCCCCC (n.*113-33_*113-32insCCCCCCCCCC) n.974-2570_974-2569insCCCCCCCCCC c.*593-33_*593-32insCCCCCCCCCC (n.*593-33_*593-32insCCCCCCCCCC) n.993-2570_993-2569insCCCCCCCCCC c.919-33_919-32insCCCCCCCCCC (n.919-33_919-32insCCCCCCCCCC) c.325-33_325-32insCCCCCCCCCC (n.325-33_325-32insCCCCCCCCCC) c.319-33_319-32insCCCCCCCCCC (n.319-33_319-32insCCCCCCCCCC) c.-27-33_-27-32insCCCCCCCCCC (n.-27-33_-27-32insCCCCCCCCCC) c.95-33_95-32insCCCCCCCCCC (n.95-33_95-32insCCCCCCCCCC) c.687-8067_687-8066insCCCCCCCCCC (n.687-8067_687-8066insCCCCCCCCCC) c.1297-33_1297-32insCCCCCCCCCC (n.1297-33_1297-32insCCCCCCCCCC) n.2534-33_2534-32insCCCCCCCCCC n.995-2570_995-2569insCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436796_133436797insCCCCCCCCCCCC | CA2692370612 | ADAMTS13 | c.1309-33_1309-32insCCCCCCCCCCCC (n.1309-33_1309-32insCCCCCCCCCCCC) c.1216-33_1216-32insCCCCCCCCCCCC (n.1216-33_1216-32insCCCCCCCCCCCC) c.565-33_565-32insCCCCCCCCCCCC (n.565-33_565-32insCCCCCCCCCCCC) c.*113-33_*113-32insCCCCCCCCCCCC (n.*113-33_*113-32insCCCCCCCCCCCC) n.974-2570_974-2569insCCCCCCCCCCCC c.*593-33_*593-32insCCCCCCCCCCCC (n.*593-33_*593-32insCCCCCCCCCCCC) n.993-2570_993-2569insCCCCCCCCCCCC c.919-33_919-32insCCCCCCCCCCCC (n.919-33_919-32insCCCCCCCCCCCC) c.325-33_325-32insCCCCCCCCCCCC (n.325-33_325-32insCCCCCCCCCCCC) c.319-33_319-32insCCCCCCCCCCCC (n.319-33_319-32insCCCCCCCCCCCC) c.-27-33_-27-32insCCCCCCCCCCCC (n.-27-33_-27-32insCCCCCCCCCCCC) c.95-33_95-32insCCCCCCCCCCCC (n.95-33_95-32insCCCCCCCCCCCC) c.687-8067_687-8066insCCCCCCCCCCCC (n.687-8067_687-8066insCCCCCCCCCCCC) c.1297-33_1297-32insCCCCCCCCCCCC (n.1297-33_1297-32insCCCCCCCCCCCC) n.2534-33_2534-32insCCCCCCCCCCCC n.995-2570_995-2569insCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436796_133436797insCCCCCCCCCCCCCCC | CA2692370611 | ADAMTS13 | c.1309-33_1309-32insCCCCCCCCCCCCCCC (n.1309-33_1309-32insCCCCCCCCCCCCCCC) c.1216-33_1216-32insCCCCCCCCCCCCCCC (n.1216-33_1216-32insCCCCCCCCCCCCCCC) c.565-33_565-32insCCCCCCCCCCCCCCC (n.565-33_565-32insCCCCCCCCCCCCCCC) c.*113-33_*113-32insCCCCCCCCCCCCCCC (n.*113-33_*113-32insCCCCCCCCCCCCCCC) n.974-2570_974-2569insCCCCCCCCCCCCCCC c.*593-33_*593-32insCCCCCCCCCCCCCCC (n.*593-33_*593-32insCCCCCCCCCCCCCCC) n.993-2570_993-2569insCCCCCCCCCCCCCCC c.919-33_919-32insCCCCCCCCCCCCCCC (n.919-33_919-32insCCCCCCCCCCCCCCC) c.325-33_325-32insCCCCCCCCCCCCCCC (n.325-33_325-32insCCCCCCCCCCCCCCC) c.319-33_319-32insCCCCCCCCCCCCCCC (n.319-33_319-32insCCCCCCCCCCCCCCC) c.-27-33_-27-32insCCCCCCCCCCCCCCC (n.-27-33_-27-32insCCCCCCCCCCCCCCC) c.95-33_95-32insCCCCCCCCCCCCCCC (n.95-33_95-32insCCCCCCCCCCCCCCC) c.687-8067_687-8066insCCCCCCCCCCCCCCC (n.687-8067_687-8066insCCCCCCCCCCCCCCC) c.1297-33_1297-32insCCCCCCCCCCCCCCC (n.1297-33_1297-32insCCCCCCCCCCCCCCC) n.2534-33_2534-32insCCCCCCCCCCCCCCC n.995-2570_995-2569insCCCCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436796_133436797insCCCCCCCCCCCCCCCC | CA2692370610 | ADAMTS13 | c.1309-33_1309-32insCCCCCCCCCCCCCCCC (n.1309-33_1309-32insCCCCCCCCCCCCCCCC) c.1216-33_1216-32insCCCCCCCCCCCCCCCC (n.1216-33_1216-32insCCCCCCCCCCCCCCCC) c.565-33_565-32insCCCCCCCCCCCCCCCC (n.565-33_565-32insCCCCCCCCCCCCCCCC) c.*113-33_*113-32insCCCCCCCCCCCCCCCC (n.*113-33_*113-32insCCCCCCCCCCCCCCCC) n.974-2570_974-2569insCCCCCCCCCCCCCCCC c.*593-33_*593-32insCCCCCCCCCCCCCCCC (n.*593-33_*593-32insCCCCCCCCCCCCCCCC) n.993-2570_993-2569insCCCCCCCCCCCCCCCC c.919-33_919-32insCCCCCCCCCCCCCCCC (n.919-33_919-32insCCCCCCCCCCCCCCCC) c.325-33_325-32insCCCCCCCCCCCCCCCC (n.325-33_325-32insCCCCCCCCCCCCCCCC) c.319-33_319-32insCCCCCCCCCCCCCCCC (n.319-33_319-32insCCCCCCCCCCCCCCCC) c.-27-33_-27-32insCCCCCCCCCCCCCCCC (n.-27-33_-27-32insCCCCCCCCCCCCCCCC) c.95-33_95-32insCCCCCCCCCCCCCCCC (n.95-33_95-32insCCCCCCCCCCCCCCCC) c.687-8067_687-8066insCCCCCCCCCCCCCCCC (n.687-8067_687-8066insCCCCCCCCCCCCCCCC) c.1297-33_1297-32insCCCCCCCCCCCCCCCC (n.1297-33_1297-32insCCCCCCCCCCCCCCCC) n.2534-33_2534-32insCCCCCCCCCCCCCCCC n.995-2570_995-2569insCCCCCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436796dup | CA2692370615 | ADAMTS13 | c.1309-33dup (n.1309-33dup) c.1216-33dup (n.1216-33dup) c.565-33dup (n.565-33dup) c.*113-33dup (n.*113-33dup) n.974-2570dup c.*593-33dup (n.*593-33dup) n.993-2570dup c.919-33dup (n.919-33dup) c.325-33dup (n.325-33dup) c.319-33dup (n.319-33dup) c.-27-33dup (n.-27-33dup) c.95-33dup (n.95-33dup) c.687-8067dup (n.687-8067dup) c.1297-33dup (n.1297-33dup) n.2534-33dup n.995-2570dup | gnomAD v4 |
| 9 | g.133436796C>A | CA2692370619 | ADAMTS13 | c.1309-33C>A (n.1309-33C>A) c.1216-33C>A (n.1216-33C>A) c.565-33C>A (n.565-33C>A) c.*113-33C>A (n.*113-33C>A) n.974-2570C>A c.*593-33C>A (n.*593-33C>A) n.993-2570C>A c.919-33C>A (n.919-33C>A) c.325-33C>A (n.325-33C>A) c.319-33C>A (n.319-33C>A) c.-27-33C>A (n.-27-33C>A) c.95-33C>A (n.95-33C>A) c.687-8067C>A (n.687-8067C>A) c.1297-33C>A (n.1297-33C>A) n.2534-33C>A n.995-2570C>A | gnomAD v4 |
| 9 | g.133436796C= | CA1882673081 | ADAMTS13 | c.1309-33C= (n.1309-33C=) c.1216-33C= (n.1216-33C=) c.565-33C= (n.565-33C=) c.*113-33C= (n.*113-33C=) n.974-2570C= c.*593-33C= (n.*593-33C=) n.993-2570C= c.919-33C= (n.919-33C=) c.325-33C= (n.325-33C=) c.319-33C= (n.319-33C=) c.-27-33C= (n.-27-33C=) c.95-33C= (n.95-33C=) c.687-8067C= (n.687-8067C=) c.1297-33C= (n.1297-33C=) n.2534-33C= n.995-2570C= | |
| 9 | g.133436796C>T | CA200929505 | ADAMTS13 | c.1309-33C>T (n.1309-33C>T) c.1216-33C>T (n.1216-33C>T) c.565-33C>T (n.565-33C>T) c.*113-33C>T (n.*113-33C>T) n.974-2570C>T c.*593-33C>T (n.*593-33C>T) n.993-2570C>T c.919-33C>T (n.919-33C>T) c.325-33C>T (n.325-33C>T) c.319-33C>T (n.319-33C>T) c.-27-33C>T (n.-27-33C>T) c.95-33C>T (n.95-33C>T) c.687-8067C>T (n.687-8067C>T) c.1297-33C>T (n.1297-33C>T) n.2534-33C>T n.995-2570C>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436796_133436801delinsCGCCAT | CA1882673082 | ADAMTS13 | c.1309-33_1309-28delinsCGCCAT (n.1309-33_1309-28delinsCGCCAT) c.1216-33_1216-28delinsCGCCAT (n.1216-33_1216-28delinsCGCCAT) c.565-33_565-28delinsCGCCAT (n.565-33_565-28delinsCGCCAT) c.*113-33_*113-28delinsCGCCAT (n.*113-33_*113-28delinsCGCCAT) n.974-2570_974-2565delinsCGCCAT c.*593-33_*593-28delinsCGCCAT (n.*593-33_*593-28delinsCGCCAT) n.993-2570_993-2565delinsCGCCAT c.919-33_919-28delinsCGCCAT (n.919-33_919-28delinsCGCCAT) c.325-33_325-28delinsCGCCAT (n.325-33_325-28delinsCGCCAT) c.319-33_319-28delinsCGCCAT (n.319-33_319-28delinsCGCCAT) c.-27-33_-27-28delinsCGCCAT (n.-27-33_-27-28delinsCGCCAT) c.95-33_95-28delinsCGCCAT (n.95-33_95-28delinsCGCCAT) c.687-8067_687-8062delinsCGCCAT (n.687-8067_687-8062delinsCGCCAT) c.1297-33_1297-28delinsCGCCAT (n.1297-33_1297-28delinsCGCCAT) n.2534-33_2534-28delinsCGCCAT n.995-2570_995-2565delinsCGCCAT | |
| 9 | g.133436796_133436797insCCCCT | CA2692370639 | ADAMTS13 | c.1309-33_1309-32insCCCCT (n.1309-33_1309-32insCCCCT) c.1216-33_1216-32insCCCCT (n.1216-33_1216-32insCCCCT) c.565-33_565-32insCCCCT (n.565-33_565-32insCCCCT) c.*113-33_*113-32insCCCCT (n.*113-33_*113-32insCCCCT) n.974-2570_974-2569insCCCCT c.*593-33_*593-32insCCCCT (n.*593-33_*593-32insCCCCT) n.993-2570_993-2569insCCCCT c.919-33_919-32insCCCCT (n.919-33_919-32insCCCCT) c.325-33_325-32insCCCCT (n.325-33_325-32insCCCCT) c.319-33_319-32insCCCCT (n.319-33_319-32insCCCCT) c.-27-33_-27-32insCCCCT (n.-27-33_-27-32insCCCCT) c.95-33_95-32insCCCCT (n.95-33_95-32insCCCCT) c.687-8067_687-8066insCCCCT (n.687-8067_687-8066insCCCCT) c.1297-33_1297-32insCCCCT (n.1297-33_1297-32insCCCCT) n.2534-33_2534-32insCCCCT n.995-2570_995-2569insCCCCT | gnomAD v4 |
| 9 | g.133436796_133436797insCCCCCCCCCCCCCCCCCCCCCCT | CA2692370637 | ADAMTS13 | c.1309-33_1309-32insCCCCCCCCCCCCCCCCCCCCCCT (n.1309-33_1309-32insCCCCCCCCCCCCCCCCCCCCCCT) c.1216-33_1216-32insCCCCCCCCCCCCCCCCCCCCCCT (n.1216-33_1216-32insCCCCCCCCCCCCCCCCCCCCCCT) c.565-33_565-32insCCCCCCCCCCCCCCCCCCCCCCT (n.565-33_565-32insCCCCCCCCCCCCCCCCCCCCCCT) c.*113-33_*113-32insCCCCCCCCCCCCCCCCCCCCCCT (n.*113-33_*113-32insCCCCCCCCCCCCCCCCCCCCCCT) n.974-2570_974-2569insCCCCCCCCCCCCCCCCCCCCCCT c.*593-33_*593-32insCCCCCCCCCCCCCCCCCCCCCCT (n.*593-33_*593-32insCCCCCCCCCCCCCCCCCCCCCCT) n.993-2570_993-2569insCCCCCCCCCCCCCCCCCCCCCCT c.919-33_919-32insCCCCCCCCCCCCCCCCCCCCCCT (n.919-33_919-32insCCCCCCCCCCCCCCCCCCCCCCT) c.325-33_325-32insCCCCCCCCCCCCCCCCCCCCCCT (n.325-33_325-32insCCCCCCCCCCCCCCCCCCCCCCT) c.319-33_319-32insCCCCCCCCCCCCCCCCCCCCCCT (n.319-33_319-32insCCCCCCCCCCCCCCCCCCCCCCT) c.-27-33_-27-32insCCCCCCCCCCCCCCCCCCCCCCT (n.-27-33_-27-32insCCCCCCCCCCCCCCCCCCCCCCT) c.95-33_95-32insCCCCCCCCCCCCCCCCCCCCCCT (n.95-33_95-32insCCCCCCCCCCCCCCCCCCCCCCT) c.687-8067_687-8066insCCCCCCCCCCCCCCCCCCCCCCT (n.687-8067_687-8066insCCCCCCCCCCCCCCCCCCCCCCT) c.1297-33_1297-32insCCCCCCCCCCCCCCCCCCCCCCT (n.1297-33_1297-32insCCCCCCCCCCCCCCCCCCCCCCT) n.2534-33_2534-32insCCCCCCCCCCCCCCCCCCCCCCT n.995-2570_995-2569insCCCCCCCCCCCCCCCCCCCCCCT | gnomAD v4 |
| 9 | g.133436797del | CA860755382 | ADAMTS13 | c.1309-32del (n.1309-32del) c.1216-32del (n.1216-32del) c.565-32del (n.565-32del) c.*113-32del (n.*113-32del) n.974-2569del c.*593-32del (n.*593-32del) n.993-2569del c.919-32del (n.919-32del) c.325-32del (n.325-32del) c.319-32del (n.319-32del) c.-27-32del (n.-27-32del) c.95-32del (n.95-32del) c.687-8066del (n.687-8066del) c.1297-32del (n.1297-32del) n.2534-32del n.995-2569del | gnomAD v4 |
| 9 | g.133436797G>A | CA200929506 | ADAMTS13 | c.1309-32G>A (n.1309-32G>A) c.1216-32G>A (n.1216-32G>A) c.565-32G>A (n.565-32G>A) c.*113-32G>A (n.*113-32G>A) n.974-2569G>A c.*593-32G>A (n.*593-32G>A) n.993-2569G>A c.919-32G>A (n.919-32G>A) c.325-32G>A (n.325-32G>A) c.319-32G>A (n.319-32G>A) c.-27-32G>A (n.-27-32G>A) c.95-32G>A (n.95-32G>A) c.687-8066G>A (n.687-8066G>A) c.1297-32G>A (n.1297-32G>A) n.2534-32G>A n.995-2569G>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436797G>C | CA860755381 | ADAMTS13 | c.1309-32G>C (n.1309-32G>C) c.1216-32G>C (n.1216-32G>C) c.565-32G>C (n.565-32G>C) c.*113-32G>C (n.*113-32G>C) n.974-2569G>C c.*593-32G>C (n.*593-32G>C) n.993-2569G>C c.919-32G>C (n.919-32G>C) c.325-32G>C (n.325-32G>C) c.319-32G>C (n.319-32G>C) c.-27-32G>C (n.-27-32G>C) c.95-32G>C (n.95-32G>C) c.687-8066G>C (n.687-8066G>C) c.1297-32G>C (n.1297-32G>C) n.2534-32G>C n.995-2569G>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436797G= | CA1882673083 | ADAMTS13 | c.1309-32G= (n.1309-32G=) c.1216-32G= (n.1216-32G=) c.565-32G= (n.565-32G=) c.*113-32G= (n.*113-32G=) n.974-2569G= c.*593-32G= (n.*593-32G=) n.993-2569G= c.919-32G= (n.919-32G=) c.325-32G= (n.325-32G=) c.319-32G= (n.319-32G=) c.-27-32G= (n.-27-32G=) c.95-32G= (n.95-32G=) c.687-8066G= (n.687-8066G=) c.1297-32G= (n.1297-32G=) n.2534-32G= n.995-2569G= | |
| 9 | g.133436797G>T | CA2692370628 | ADAMTS13 | c.1309-32G>T (n.1309-32G>T) c.1216-32G>T (n.1216-32G>T) c.565-32G>T (n.565-32G>T) c.*113-32G>T (n.*113-32G>T) n.974-2569G>T c.*593-32G>T (n.*593-32G>T) n.993-2569G>T c.919-32G>T (n.919-32G>T) c.325-32G>T (n.325-32G>T) c.319-32G>T (n.319-32G>T) c.-27-32G>T (n.-27-32G>T) c.95-32G>T (n.95-32G>T) c.687-8066G>T (n.687-8066G>T) c.1297-32G>T (n.1297-32G>T) n.2534-32G>T n.995-2569G>T | gnomAD v4 |
| 9 | g.133436797dup | CA2692370633 | ADAMTS13 | c.1309-32dup (n.1309-32dup) c.1216-32dup (n.1216-32dup) c.565-32dup (n.565-32dup) c.*113-32dup (n.*113-32dup) n.974-2569dup c.*593-32dup (n.*593-32dup) n.993-2569dup c.919-32dup (n.919-32dup) c.325-32dup (n.325-32dup) c.319-32dup (n.319-32dup) c.-27-32dup (n.-27-32dup) c.95-32dup (n.95-32dup) c.687-8066dup (n.687-8066dup) c.1297-32dup (n.1297-32dup) n.2534-32dup n.995-2569dup | gnomAD v4 |
| 9 | g.133436797_133436801del | CA860755383 | ADAMTS13 | c.1309-32_1309-28del (n.1309-32_1309-28del) c.1216-32_1216-28del (n.1216-32_1216-28del) c.565-32_565-28del (n.565-32_565-28del) c.*113-32_*113-28del (n.*113-32_*113-28del) n.974-2569_974-2565del c.*593-32_*593-28del (n.*593-32_*593-28del) n.993-2569_993-2565del c.919-32_919-28del (n.919-32_919-28del) c.325-32_325-28del (n.325-32_325-28del) c.319-32_319-28del (n.319-32_319-28del) c.-27-32_-27-28del (n.-27-32_-27-28del) c.95-32_95-28del (n.95-32_95-28del) c.687-8066_687-8062del (n.687-8066_687-8062del) c.1297-32_1297-28del (n.1297-32_1297-28del) n.2534-32_2534-28del n.995-2569_995-2565del | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436798C>A | CA2692370641 | ADAMTS13 | c.1309-31C>A (n.1309-31C>A) c.1216-31C>A (n.1216-31C>A) c.565-31C>A (n.565-31C>A) c.*113-31C>A (n.*113-31C>A) n.974-2568C>A c.*593-31C>A (n.*593-31C>A) n.993-2568C>A c.919-31C>A (n.919-31C>A) c.325-31C>A (n.325-31C>A) c.319-31C>A (n.319-31C>A) c.-27-31C>A (n.-27-31C>A) c.95-31C>A (n.95-31C>A) c.687-8065C>A (n.687-8065C>A) c.1297-31C>A (n.1297-31C>A) n.2534-31C>A n.995-2568C>A | gnomAD v4 |
| 9 | g.133436798C>G | CA2692370642 | ADAMTS13 | c.1309-31C>G (n.1309-31C>G) c.1216-31C>G (n.1216-31C>G) c.565-31C>G (n.565-31C>G) c.*113-31C>G (n.*113-31C>G) n.974-2568C>G c.*593-31C>G (n.*593-31C>G) n.993-2568C>G c.919-31C>G (n.919-31C>G) c.325-31C>G (n.325-31C>G) c.319-31C>G (n.319-31C>G) c.-27-31C>G (n.-27-31C>G) c.95-31C>G (n.95-31C>G) c.687-8065C>G (n.687-8065C>G) c.1297-31C>G (n.1297-31C>G) n.2534-31C>G n.995-2568C>G | gnomAD v4 |
| 9 | g.133436798C>T | CA2692370643 | ADAMTS13 | c.1309-31C>T (n.1309-31C>T) c.1216-31C>T (n.1216-31C>T) c.565-31C>T (n.565-31C>T) c.*113-31C>T (n.*113-31C>T) n.974-2568C>T c.*593-31C>T (n.*593-31C>T) n.993-2568C>T c.919-31C>T (n.919-31C>T) c.325-31C>T (n.325-31C>T) c.319-31C>T (n.319-31C>T) c.-27-31C>T (n.-27-31C>T) c.95-31C>T (n.95-31C>T) c.687-8065C>T (n.687-8065C>T) c.1297-31C>T (n.1297-31C>T) n.2534-31C>T n.995-2568C>T | gnomAD v4 |
| 9 | g.133436799_133436800insCTCCCCCC | CA2692370640 | ADAMTS13 | c.1309-30_1309-29insCTCCCCCC (n.1309-30_1309-29insCTCCCCCC) c.1216-30_1216-29insCTCCCCCC (n.1216-30_1216-29insCTCCCCCC) c.565-30_565-29insCTCCCCCC (n.565-30_565-29insCTCCCCCC) c.*113-30_*113-29insCTCCCCCC (n.*113-30_*113-29insCTCCCCCC) n.974-2567_974-2566insCTCCCCCC c.*593-30_*593-29insCTCCCCCC (n.*593-30_*593-29insCTCCCCCC) n.993-2567_993-2566insCTCCCCCC c.919-30_919-29insCTCCCCCC (n.919-30_919-29insCTCCCCCC) c.325-30_325-29insCTCCCCCC (n.325-30_325-29insCTCCCCCC) c.319-30_319-29insCTCCCCCC (n.319-30_319-29insCTCCCCCC) c.-27-30_-27-29insCTCCCCCC (n.-27-30_-27-29insCTCCCCCC) c.95-30_95-29insCTCCCCCC (n.95-30_95-29insCTCCCCCC) c.687-8064_687-8063insCTCCCCCC (n.687-8064_687-8063insCTCCCCCC) c.1297-30_1297-29insCTCCCCCC (n.1297-30_1297-29insCTCCCCCC) n.2534-30_2534-29insCTCCCCCC n.995-2567_995-2566insCTCCCCCC | gnomAD v4 |
| 9 | g.133436799dup | CA2692370644 | ADAMTS13 | c.1309-30dup (n.1309-30dup) c.1216-30dup (n.1216-30dup) c.565-30dup (n.565-30dup) c.*113-30dup (n.*113-30dup) n.974-2567dup c.*593-30dup (n.*593-30dup) n.993-2567dup c.919-30dup (n.919-30dup) c.325-30dup (n.325-30dup) c.319-30dup (n.319-30dup) c.-27-30dup (n.-27-30dup) c.95-30dup (n.95-30dup) c.687-8064dup (n.687-8064dup) c.1297-30dup (n.1297-30dup) n.2534-30dup n.995-2567dup | gnomAD v4 |
| 9 | g.133436799C>A | CA2692370647 | ADAMTS13 | c.1309-30C>A (n.1309-30C>A) c.1216-30C>A (n.1216-30C>A) c.565-30C>A (n.565-30C>A) c.*113-30C>A (n.*113-30C>A) n.974-2567C>A c.*593-30C>A (n.*593-30C>A) n.993-2567C>A c.919-30C>A (n.919-30C>A) c.325-30C>A (n.325-30C>A) c.319-30C>A (n.319-30C>A) c.-27-30C>A (n.-27-30C>A) c.95-30C>A (n.95-30C>A) c.687-8064C>A (n.687-8064C>A) c.1297-30C>A (n.1297-30C>A) n.2534-30C>A n.995-2567C>A | gnomAD v4 |
| 9 | g.133436799C>G | CA2692370646 | ADAMTS13 | c.1309-30C>G (n.1309-30C>G) c.1216-30C>G (n.1216-30C>G) c.565-30C>G (n.565-30C>G) c.*113-30C>G (n.*113-30C>G) n.974-2567C>G c.*593-30C>G (n.*593-30C>G) n.993-2567C>G c.919-30C>G (n.919-30C>G) c.325-30C>G (n.325-30C>G) c.319-30C>G (n.319-30C>G) c.-27-30C>G (n.-27-30C>G) c.95-30C>G (n.95-30C>G) c.687-8064C>G (n.687-8064C>G) c.1297-30C>G (n.1297-30C>G) n.2534-30C>G n.995-2567C>G | gnomAD v4 |
| 9 | g.133436799C>T | CA2692370645 | ADAMTS13 | c.1309-30C>T (n.1309-30C>T) c.1216-30C>T (n.1216-30C>T) c.565-30C>T (n.565-30C>T) c.*113-30C>T (n.*113-30C>T) n.974-2567C>T c.*593-30C>T (n.*593-30C>T) n.993-2567C>T c.919-30C>T (n.919-30C>T) c.325-30C>T (n.325-30C>T) c.319-30C>T (n.319-30C>T) c.-27-30C>T (n.-27-30C>T) c.95-30C>T (n.95-30C>T) c.687-8064C>T (n.687-8064C>T) c.1297-30C>T (n.1297-30C>T) n.2534-30C>T n.995-2567C>T | gnomAD v4 |
| 9 | g.133436799_133436801delinsCAT | CA1882673084 | ADAMTS13 | c.1309-30_1309-28delinsCAT (n.1309-30_1309-28delinsCAT) c.1216-30_1216-28delinsCAT (n.1216-30_1216-28delinsCAT) c.565-30_565-28delinsCAT (n.565-30_565-28delinsCAT) c.*113-30_*113-28delinsCAT (n.*113-30_*113-28delinsCAT) n.974-2567_974-2565delinsCAT c.*593-30_*593-28delinsCAT (n.*593-30_*593-28delinsCAT) n.993-2567_993-2565delinsCAT c.919-30_919-28delinsCAT (n.919-30_919-28delinsCAT) c.325-30_325-28delinsCAT (n.325-30_325-28delinsCAT) c.319-30_319-28delinsCAT (n.319-30_319-28delinsCAT) c.-27-30_-27-28delinsCAT (n.-27-30_-27-28delinsCAT) c.95-30_95-28delinsCAT (n.95-30_95-28delinsCAT) c.687-8064_687-8062delinsCAT (n.687-8064_687-8062delinsCAT) c.1297-30_1297-28delinsCAT (n.1297-30_1297-28delinsCAT) n.2534-30_2534-28delinsCAT n.995-2567_995-2565delinsCAT | |
| 9 | g.133436799_133436800insCA | CA2692370651 | ADAMTS13 | c.1309-30_1309-29insCA (n.1309-30_1309-29insCA) c.1216-30_1216-29insCA (n.1216-30_1216-29insCA) c.565-30_565-29insCA (n.565-30_565-29insCA) c.*113-30_*113-29insCA (n.*113-30_*113-29insCA) n.974-2567_974-2566insCA c.*593-30_*593-29insCA (n.*593-30_*593-29insCA) n.993-2567_993-2566insCA c.919-30_919-29insCA (n.919-30_919-29insCA) c.325-30_325-29insCA (n.325-30_325-29insCA) c.319-30_319-29insCA (n.319-30_319-29insCA) c.-27-30_-27-29insCA (n.-27-30_-27-29insCA) c.95-30_95-29insCA (n.95-30_95-29insCA) c.687-8064_687-8063insCA (n.687-8064_687-8063insCA) c.1297-30_1297-29insCA (n.1297-30_1297-29insCA) n.2534-30_2534-29insCA n.995-2567_995-2566insCA | gnomAD v4 |
| 9 | g.133436800A= | CA1882673085 | ADAMTS13 | c.1309-29A= (n.1309-29A=) c.1216-29A= (n.1216-29A=) c.565-29A= (n.565-29A=) c.*113-29A= (n.*113-29A=) n.974-2566A= c.*593-29A= (n.*593-29A=) n.993-2566A= c.919-29A= (n.919-29A=) c.325-29A= (n.325-29A=) c.319-29A= (n.319-29A=) c.-27-29A= (n.-27-29A=) c.95-29A= (n.95-29A=) c.687-8063A= (n.687-8063A=) c.1297-29A= (n.1297-29A=) n.2534-29A= n.995-2566A= | |
| 9 | g.133436800A>C | CA860755386 | ADAMTS13 | c.1309-29A>C (n.1309-29A>C) c.1216-29A>C (n.1216-29A>C) c.565-29A>C (n.565-29A>C) c.*113-29A>C (n.*113-29A>C) n.974-2566A>C c.*593-29A>C (n.*593-29A>C) n.993-2566A>C c.919-29A>C (n.919-29A>C) c.325-29A>C (n.325-29A>C) c.319-29A>C (n.319-29A>C) c.-27-29A>C (n.-27-29A>C) c.95-29A>C (n.95-29A>C) c.687-8063A>C (n.687-8063A>C) c.1297-29A>C (n.1297-29A>C) n.2534-29A>C n.995-2566A>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436800A>G | CA2692370654 | ADAMTS13 | c.1309-29A>G (n.1309-29A>G) c.1216-29A>G (n.1216-29A>G) c.565-29A>G (n.565-29A>G) c.*113-29A>G (n.*113-29A>G) n.974-2566A>G c.*593-29A>G (n.*593-29A>G) n.993-2566A>G c.919-29A>G (n.919-29A>G) c.325-29A>G (n.325-29A>G) c.319-29A>G (n.319-29A>G) c.-27-29A>G (n.-27-29A>G) c.95-29A>G (n.95-29A>G) c.687-8063A>G (n.687-8063A>G) c.1297-29A>G (n.1297-29A>G) n.2534-29A>G n.995-2566A>G | gnomAD v4 |
| 9 | g.133436800A>T | CA2692370653 | ADAMTS13 | c.1309-29A>T (n.1309-29A>T) c.1216-29A>T (n.1216-29A>T) c.565-29A>T (n.565-29A>T) c.*113-29A>T (n.*113-29A>T) n.974-2566A>T c.*593-29A>T (n.*593-29A>T) n.993-2566A>T c.919-29A>T (n.919-29A>T) c.325-29A>T (n.325-29A>T) c.319-29A>T (n.319-29A>T) c.-27-29A>T (n.-27-29A>T) c.95-29A>T (n.95-29A>T) c.687-8063A>T (n.687-8063A>T) c.1297-29A>T (n.1297-29A>T) n.2534-29A>T n.995-2566A>T | gnomAD v4 |
| 9 | g.133436800_133436801del | CA860755385 | ADAMTS13 | c.1309-29_1309-28del (n.1309-29_1309-28del) c.1216-29_1216-28del (n.1216-29_1216-28del) c.565-29_565-28del (n.565-29_565-28del) c.*113-29_*113-28del (n.*113-29_*113-28del) n.974-2566_974-2565del c.*593-29_*593-28del (n.*593-29_*593-28del) n.993-2566_993-2565del c.919-29_919-28del (n.919-29_919-28del) c.325-29_325-28del (n.325-29_325-28del) c.319-29_319-28del (n.319-29_319-28del) c.-27-29_-27-28del (n.-27-29_-27-28del) c.95-29_95-28del (n.95-29_95-28del) c.687-8063_687-8062del (n.687-8063_687-8062del) c.1297-29_1297-28del (n.1297-29_1297-28del) n.2534-29_2534-28del n.995-2566_995-2565del | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436800_133436801insC | CA2692370672 | ADAMTS13 | c.1309-29_1309-28insC (n.1309-29_1309-28insC) c.1216-29_1216-28insC (n.1216-29_1216-28insC) c.565-29_565-28insC (n.565-29_565-28insC) c.*113-29_*113-28insC (n.*113-29_*113-28insC) n.974-2566_974-2565insC c.*593-29_*593-28insC (n.*593-29_*593-28insC) n.993-2566_993-2565insC c.919-29_919-28insC (n.919-29_919-28insC) c.325-29_325-28insC (n.325-29_325-28insC) c.319-29_319-28insC (n.319-29_319-28insC) c.-27-29_-27-28insC (n.-27-29_-27-28insC) c.95-29_95-28insC (n.95-29_95-28insC) c.687-8063_687-8062insC (n.687-8063_687-8062insC) c.1297-29_1297-28insC (n.1297-29_1297-28insC) n.2534-29_2534-28insC n.995-2566_995-2565insC | gnomAD v4 |
| 9 | g.133436800_133436801insCCCCC | CA2692370670 | ADAMTS13 | c.1309-29_1309-28insCCCCC (n.1309-29_1309-28insCCCCC) c.1216-29_1216-28insCCCCC (n.1216-29_1216-28insCCCCC) c.565-29_565-28insCCCCC (n.565-29_565-28insCCCCC) c.*113-29_*113-28insCCCCC (n.*113-29_*113-28insCCCCC) n.974-2566_974-2565insCCCCC c.*593-29_*593-28insCCCCC (n.*593-29_*593-28insCCCCC) n.993-2566_993-2565insCCCCC c.919-29_919-28insCCCCC (n.919-29_919-28insCCCCC) c.325-29_325-28insCCCCC (n.325-29_325-28insCCCCC) c.319-29_319-28insCCCCC (n.319-29_319-28insCCCCC) c.-27-29_-27-28insCCCCC (n.-27-29_-27-28insCCCCC) c.95-29_95-28insCCCCC (n.95-29_95-28insCCCCC) c.687-8063_687-8062insCCCCC (n.687-8063_687-8062insCCCCC) c.1297-29_1297-28insCCCCC (n.1297-29_1297-28insCCCCC) n.2534-29_2534-28insCCCCC n.995-2566_995-2565insCCCCC | gnomAD v4 |
| 9 | g.133436800_133436801insCCCCCCCCC | CA2692370668 | ADAMTS13 | c.1309-29_1309-28insCCCCCCCCC (n.1309-29_1309-28insCCCCCCCCC) c.1216-29_1216-28insCCCCCCCCC (n.1216-29_1216-28insCCCCCCCCC) c.565-29_565-28insCCCCCCCCC (n.565-29_565-28insCCCCCCCCC) c.*113-29_*113-28insCCCCCCCCC (n.*113-29_*113-28insCCCCCCCCC) n.974-2566_974-2565insCCCCCCCCC c.*593-29_*593-28insCCCCCCCCC (n.*593-29_*593-28insCCCCCCCCC) n.993-2566_993-2565insCCCCCCCCC c.919-29_919-28insCCCCCCCCC (n.919-29_919-28insCCCCCCCCC) c.325-29_325-28insCCCCCCCCC (n.325-29_325-28insCCCCCCCCC) c.319-29_319-28insCCCCCCCCC (n.319-29_319-28insCCCCCCCCC) c.-27-29_-27-28insCCCCCCCCC (n.-27-29_-27-28insCCCCCCCCC) c.95-29_95-28insCCCCCCCCC (n.95-29_95-28insCCCCCCCCC) c.687-8063_687-8062insCCCCCCCCC (n.687-8063_687-8062insCCCCCCCCC) c.1297-29_1297-28insCCCCCCCCC (n.1297-29_1297-28insCCCCCCCCC) n.2534-29_2534-28insCCCCCCCCC n.995-2566_995-2565insCCCCCCCCC | gnomAD v4 |
| 9 | g.133436800_133436801insCCCCCCCCCCCC | CA2692370666 | ADAMTS13 | c.1309-29_1309-28insCCCCCCCCCCCC (n.1309-29_1309-28insCCCCCCCCCCCC) c.1216-29_1216-28insCCCCCCCCCCCC (n.1216-29_1216-28insCCCCCCCCCCCC) c.565-29_565-28insCCCCCCCCCCCC (n.565-29_565-28insCCCCCCCCCCCC) c.*113-29_*113-28insCCCCCCCCCCCC (n.*113-29_*113-28insCCCCCCCCCCCC) n.974-2566_974-2565insCCCCCCCCCCCC c.*593-29_*593-28insCCCCCCCCCCCC (n.*593-29_*593-28insCCCCCCCCCCCC) n.993-2566_993-2565insCCCCCCCCCCCC c.919-29_919-28insCCCCCCCCCCCC (n.919-29_919-28insCCCCCCCCCCCC) c.325-29_325-28insCCCCCCCCCCCC (n.325-29_325-28insCCCCCCCCCCCC) c.319-29_319-28insCCCCCCCCCCCC (n.319-29_319-28insCCCCCCCCCCCC) c.-27-29_-27-28insCCCCCCCCCCCC (n.-27-29_-27-28insCCCCCCCCCCCC) c.95-29_95-28insCCCCCCCCCCCC (n.95-29_95-28insCCCCCCCCCCCC) c.687-8063_687-8062insCCCCCCCCCCCC (n.687-8063_687-8062insCCCCCCCCCCCC) c.1297-29_1297-28insCCCCCCCCCCCC (n.1297-29_1297-28insCCCCCCCCCCCC) n.2534-29_2534-28insCCCCCCCCCCCC n.995-2566_995-2565insCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436800_133436801insCCCCCCCCCCCCCCCCC | CA2692370659 | ADAMTS13 | c.1309-29_1309-28insCCCCCCCCCCCCCCCCC (n.1309-29_1309-28insCCCCCCCCCCCCCCCCC) c.1216-29_1216-28insCCCCCCCCCCCCCCCCC (n.1216-29_1216-28insCCCCCCCCCCCCCCCCC) c.565-29_565-28insCCCCCCCCCCCCCCCCC (n.565-29_565-28insCCCCCCCCCCCCCCCCC) c.*113-29_*113-28insCCCCCCCCCCCCCCCCC (n.*113-29_*113-28insCCCCCCCCCCCCCCCCC) n.974-2566_974-2565insCCCCCCCCCCCCCCCCC c.*593-29_*593-28insCCCCCCCCCCCCCCCCC (n.*593-29_*593-28insCCCCCCCCCCCCCCCCC) n.993-2566_993-2565insCCCCCCCCCCCCCCCCC c.919-29_919-28insCCCCCCCCCCCCCCCCC (n.919-29_919-28insCCCCCCCCCCCCCCCCC) c.325-29_325-28insCCCCCCCCCCCCCCCCC (n.325-29_325-28insCCCCCCCCCCCCCCCCC) c.319-29_319-28insCCCCCCCCCCCCCCCCC (n.319-29_319-28insCCCCCCCCCCCCCCCCC) c.-27-29_-27-28insCCCCCCCCCCCCCCCCC (n.-27-29_-27-28insCCCCCCCCCCCCCCCCC) c.95-29_95-28insCCCCCCCCCCCCCCCCC (n.95-29_95-28insCCCCCCCCCCCCCCCCC) c.687-8063_687-8062insCCCCCCCCCCCCCCCCC (n.687-8063_687-8062insCCCCCCCCCCCCCCCCC) c.1297-29_1297-28insCCCCCCCCCCCCCCCCC (n.1297-29_1297-28insCCCCCCCCCCCCCCCCC) n.2534-29_2534-28insCCCCCCCCCCCCCCCCC n.995-2566_995-2565insCCCCCCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436800_133436801insACCCCCCCCCCCCCCCC | CA860755391 | ADAMTS13 | c.1309-29_1309-28insACCCCCCCCCCCCCCCC (n.1309-29_1309-28insACCCCCCCCCCCCCCCC) c.1216-29_1216-28insACCCCCCCCCCCCCCCC (n.1216-29_1216-28insACCCCCCCCCCCCCCCC) c.565-29_565-28insACCCCCCCCCCCCCCCC (n.565-29_565-28insACCCCCCCCCCCCCCCC) c.*113-29_*113-28insACCCCCCCCCCCCCCCC (n.*113-29_*113-28insACCCCCCCCCCCCCCCC) n.974-2566_974-2565insACCCCCCCCCCCCCCCC c.*593-29_*593-28insACCCCCCCCCCCCCCCC (n.*593-29_*593-28insACCCCCCCCCCCCCCCC) n.993-2566_993-2565insACCCCCCCCCCCCCCCC c.919-29_919-28insACCCCCCCCCCCCCCCC (n.919-29_919-28insACCCCCCCCCCCCCCCC) c.325-29_325-28insACCCCCCCCCCCCCCCC (n.325-29_325-28insACCCCCCCCCCCCCCCC) c.319-29_319-28insACCCCCCCCCCCCCCCC (n.319-29_319-28insACCCCCCCCCCCCCCCC) c.-27-29_-27-28insACCCCCCCCCCCCCCCC (n.-27-29_-27-28insACCCCCCCCCCCCCCCC) c.95-29_95-28insACCCCCCCCCCCCCCCC (n.95-29_95-28insACCCCCCCCCCCCCCCC) c.687-8063_687-8062insACCCCCCCCCCCCCCCC (n.687-8063_687-8062insACCCCCCCCCCCCCCCC) c.1297-29_1297-28insACCCCCCCCCCCCCCCC (n.1297-29_1297-28insACCCCCCCCCCCCCCCC) n.2534-29_2534-28insACCCCCCCCCCCCCCCC n.995-2566_995-2565insACCCCCCCCCCCCCCCC | |
| 9 | g.133436800_133436801insCCCCCCCCCCCCCCCCCC | CA2786169577 | ADAMTS13 | c.1309-29_1309-28insCCCCCCCCCCCCCCCCCC (n.1309-29_1309-28insCCCCCCCCCCCCCCCCCC) c.1216-29_1216-28insCCCCCCCCCCCCCCCCCC (n.1216-29_1216-28insCCCCCCCCCCCCCCCCCC) c.565-29_565-28insCCCCCCCCCCCCCCCCCC (n.565-29_565-28insCCCCCCCCCCCCCCCCCC) c.*113-29_*113-28insCCCCCCCCCCCCCCCCCC (n.*113-29_*113-28insCCCCCCCCCCCCCCCCCC) n.974-2566_974-2565insCCCCCCCCCCCCCCCCCC c.*593-29_*593-28insCCCCCCCCCCCCCCCCCC (n.*593-29_*593-28insCCCCCCCCCCCCCCCCCC) n.993-2566_993-2565insCCCCCCCCCCCCCCCCCC c.919-29_919-28insCCCCCCCCCCCCCCCCCC (n.919-29_919-28insCCCCCCCCCCCCCCCCCC) c.325-29_325-28insCCCCCCCCCCCCCCCCCC (n.325-29_325-28insCCCCCCCCCCCCCCCCCC) c.319-29_319-28insCCCCCCCCCCCCCCCCCC (n.319-29_319-28insCCCCCCCCCCCCCCCCCC) c.-27-29_-27-28insCCCCCCCCCCCCCCCCCC (n.-27-29_-27-28insCCCCCCCCCCCCCCCCCC) c.95-29_95-28insCCCCCCCCCCCCCCCCCC (n.95-29_95-28insCCCCCCCCCCCCCCCCCC) c.687-8063_687-8062insCCCCCCCCCCCCCCCCCC (n.687-8063_687-8062insCCCCCCCCCCCCCCCCCC) c.1297-29_1297-28insCCCCCCCCCCCCCCCCCC (n.1297-29_1297-28insCCCCCCCCCCCCCCCCCC) n.2534-29_2534-28insCCCCCCCCCCCCCCCCCC n.995-2566_995-2565insCCCCCCCCCCCCCCCCCC | |
| 9 | g.133436800_133436801insCCCCCCCCCCCCCCCCCCCC | CA2692370664 | ADAMTS13 | c.1309-29_1309-28insCCCCCCCCCCCCCCCCCCCC (n.1309-29_1309-28insCCCCCCCCCCCCCCCCCCCC) c.1216-29_1216-28insCCCCCCCCCCCCCCCCCCCC (n.1216-29_1216-28insCCCCCCCCCCCCCCCCCCCC) c.565-29_565-28insCCCCCCCCCCCCCCCCCCCC (n.565-29_565-28insCCCCCCCCCCCCCCCCCCCC) c.*113-29_*113-28insCCCCCCCCCCCCCCCCCCCC (n.*113-29_*113-28insCCCCCCCCCCCCCCCCCCCC) n.974-2566_974-2565insCCCCCCCCCCCCCCCCCCCC c.*593-29_*593-28insCCCCCCCCCCCCCCCCCCCC (n.*593-29_*593-28insCCCCCCCCCCCCCCCCCCCC) n.993-2566_993-2565insCCCCCCCCCCCCCCCCCCCC c.919-29_919-28insCCCCCCCCCCCCCCCCCCCC (n.919-29_919-28insCCCCCCCCCCCCCCCCCCCC) c.325-29_325-28insCCCCCCCCCCCCCCCCCCCC (n.325-29_325-28insCCCCCCCCCCCCCCCCCCCC) c.319-29_319-28insCCCCCCCCCCCCCCCCCCCC (n.319-29_319-28insCCCCCCCCCCCCCCCCCCCC) c.-27-29_-27-28insCCCCCCCCCCCCCCCCCCCC (n.-27-29_-27-28insCCCCCCCCCCCCCCCCCCCC) c.95-29_95-28insCCCCCCCCCCCCCCCCCCCC (n.95-29_95-28insCCCCCCCCCCCCCCCCCCCC) c.687-8063_687-8062insCCCCCCCCCCCCCCCCCCCC (n.687-8063_687-8062insCCCCCCCCCCCCCCCCCCCC) c.1297-29_1297-28insCCCCCCCCCCCCCCCCCCCC (n.1297-29_1297-28insCCCCCCCCCCCCCCCCCCCC) n.2534-29_2534-28insCCCCCCCCCCCCCCCCCCCC n.995-2566_995-2565insCCCCCCCCCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436800_133436801insCCCCCCCCCCCCCCCCCCCCCCCC | CA2692370663 | ADAMTS13 | c.1309-29_1309-28insCCCCCCCCCCCCCCCCCCCCCCCC (n.1309-29_1309-28insCCCCCCCCCCCCCCCCCCCCCCCC) c.1216-29_1216-28insCCCCCCCCCCCCCCCCCCCCCCCC (n.1216-29_1216-28insCCCCCCCCCCCCCCCCCCCCCCCC) c.565-29_565-28insCCCCCCCCCCCCCCCCCCCCCCCC (n.565-29_565-28insCCCCCCCCCCCCCCCCCCCCCCCC) c.*113-29_*113-28insCCCCCCCCCCCCCCCCCCCCCCCC (n.*113-29_*113-28insCCCCCCCCCCCCCCCCCCCCCCCC) n.974-2566_974-2565insCCCCCCCCCCCCCCCCCCCCCCCC c.*593-29_*593-28insCCCCCCCCCCCCCCCCCCCCCCCC (n.*593-29_*593-28insCCCCCCCCCCCCCCCCCCCCCCCC) n.993-2566_993-2565insCCCCCCCCCCCCCCCCCCCCCCCC c.919-29_919-28insCCCCCCCCCCCCCCCCCCCCCCCC (n.919-29_919-28insCCCCCCCCCCCCCCCCCCCCCCCC) c.325-29_325-28insCCCCCCCCCCCCCCCCCCCCCCCC (n.325-29_325-28insCCCCCCCCCCCCCCCCCCCCCCCC) c.319-29_319-28insCCCCCCCCCCCCCCCCCCCCCCCC (n.319-29_319-28insCCCCCCCCCCCCCCCCCCCCCCCC) c.-27-29_-27-28insCCCCCCCCCCCCCCCCCCCCCCCC (n.-27-29_-27-28insCCCCCCCCCCCCCCCCCCCCCCCC) c.95-29_95-28insCCCCCCCCCCCCCCCCCCCCCCCC (n.95-29_95-28insCCCCCCCCCCCCCCCCCCCCCCCC) c.687-8063_687-8062insCCCCCCCCCCCCCCCCCCCCCCCC (n.687-8063_687-8062insCCCCCCCCCCCCCCCCCCCCCCCC) c.1297-29_1297-28insCCCCCCCCCCCCCCCCCCCCCCCC (n.1297-29_1297-28insCCCCCCCCCCCCCCCCCCCCCCCC) n.2534-29_2534-28insCCCCCCCCCCCCCCCCCCCCCCCC n.995-2566_995-2565insCCCCCCCCCCCCCCCCCCCCCCCC | gnomAD v4 |
| 9 | g.133436801del | CA2692370661 | ADAMTS13 | c.1309-28del (n.1309-28del) c.1216-28del (n.1216-28del) c.565-28del (n.565-28del) c.*113-28del (n.*113-28del) n.974-2565del c.*593-28del (n.*593-28del) n.993-2565del c.919-28del (n.919-28del) c.325-28del (n.325-28del) c.319-28del (n.319-28del) c.-27-28del (n.-27-28del) c.95-28del (n.95-28del) c.687-8062del (n.687-8062del) c.1297-28del (n.1297-28del) n.2534-28del n.995-2565del | gnomAD v4 |
| 9 | g.133436801T>A | CA860755387 | ADAMTS13 | c.1309-28T>A (n.1309-28T>A) c.1216-28T>A (n.1216-28T>A) c.565-28T>A (n.565-28T>A) c.*113-28T>A (n.*113-28T>A) n.974-2565T>A c.*593-28T>A (n.*593-28T>A) n.993-2565T>A c.919-28T>A (n.919-28T>A) c.325-28T>A (n.325-28T>A) c.319-28T>A (n.319-28T>A) c.-27-28T>A (n.-27-28T>A) c.95-28T>A (n.95-28T>A) c.687-8062T>A (n.687-8062T>A) c.1297-28T>A (n.1297-28T>A) n.2534-28T>A n.995-2565T>A | gnomAD v4 |
| 9 | g.133436801T>C | CA860755389 | ADAMTS13 | c.1309-28T>C (n.1309-28T>C) c.1216-28T>C (n.1216-28T>C) c.565-28T>C (n.565-28T>C) c.*113-28T>C (n.*113-28T>C) n.974-2565T>C c.*593-28T>C (n.*593-28T>C) n.993-2565T>C c.919-28T>C (n.919-28T>C) c.325-28T>C (n.325-28T>C) c.319-28T>C (n.319-28T>C) c.-27-28T>C (n.-27-28T>C) c.95-28T>C (n.95-28T>C) c.687-8062T>C (n.687-8062T>C) c.1297-28T>C (n.1297-28T>C) n.2534-28T>C n.995-2565T>C | gnomAD v3 gnomAD v4 |
| 9 | g.133436801T>G | CA2565813247 | ADAMTS13 | c.1309-28T>G (n.1309-28T>G) c.1216-28T>G (n.1216-28T>G) c.565-28T>G (n.565-28T>G) c.*113-28T>G (n.*113-28T>G) n.974-2565T>G c.*593-28T>G (n.*593-28T>G) n.993-2565T>G c.919-28T>G (n.919-28T>G) c.325-28T>G (n.325-28T>G) c.319-28T>G (n.319-28T>G) c.-27-28T>G (n.-27-28T>G) c.95-28T>G (n.95-28T>G) c.687-8062T>G (n.687-8062T>G) c.1297-28T>G (n.1297-28T>G) n.2534-28T>G n.995-2565T>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436801_133436802insG | CA2692370699 | ADAMTS13 | c.1309-28_1309-27insG (n.1309-28_1309-27insG) c.1216-28_1216-27insG (n.1216-28_1216-27insG) c.565-28_565-27insG (n.565-28_565-27insG) c.*113-28_*113-27insG (n.*113-28_*113-27insG) n.974-2565_974-2564insG c.*593-28_*593-27insG (n.*593-28_*593-27insG) n.993-2565_993-2564insG c.919-28_919-27insG (n.919-28_919-27insG) c.325-28_325-27insG (n.325-28_325-27insG) c.319-28_319-27insG (n.319-28_319-27insG) c.-27-28_-27-27insG (n.-27-28_-27-27insG) c.95-28_95-27insG (n.95-28_95-27insG) c.687-8062_687-8061insG (n.687-8062_687-8061insG) c.1297-28_1297-27insG (n.1297-28_1297-27insG) n.2534-28_2534-27insG n.995-2565_995-2564insG | gnomAD v4 |
| 9 | g.133436802C>A | CA2692370694 | ADAMTS13 | c.1309-27C>A (n.1309-27C>A) c.1216-27C>A (n.1216-27C>A) c.565-27C>A (n.565-27C>A) c.*113-27C>A (n.*113-27C>A) n.974-2564C>A c.*593-27C>A (n.*593-27C>A) n.993-2564C>A c.919-27C>A (n.919-27C>A) c.325-27C>A (n.325-27C>A) c.319-27C>A (n.319-27C>A) c.-27-27C>A (n.-27-27C>A) c.95-27C>A (n.95-27C>A) c.687-8061C>A (n.687-8061C>A) c.1297-27C>A (n.1297-27C>A) n.2534-27C>A n.995-2564C>A | gnomAD v4 |
| 9 | g.133436802C>G | CA2692370684 | ADAMTS13 | c.1309-27C>G (n.1309-27C>G) c.1216-27C>G (n.1216-27C>G) c.565-27C>G (n.565-27C>G) c.*113-27C>G (n.*113-27C>G) n.974-2564C>G c.*593-27C>G (n.*593-27C>G) n.993-2564C>G c.919-27C>G (n.919-27C>G) c.325-27C>G (n.325-27C>G) c.319-27C>G (n.319-27C>G) c.-27-27C>G (n.-27-27C>G) c.95-27C>G (n.95-27C>G) c.687-8061C>G (n.687-8061C>G) c.1297-27C>G (n.1297-27C>G) n.2534-27C>G n.995-2564C>G | gnomAD v4 |
| 9 | g.133436802C>T | CA2692370682 | ADAMTS13 | c.1309-27C>T (n.1309-27C>T) c.1216-27C>T (n.1216-27C>T) c.565-27C>T (n.565-27C>T) c.*113-27C>T (n.*113-27C>T) n.974-2564C>T c.*593-27C>T (n.*593-27C>T) n.993-2564C>T c.919-27C>T (n.919-27C>T) c.325-27C>T (n.325-27C>T) c.319-27C>T (n.319-27C>T) c.-27-27C>T (n.-27-27C>T) c.95-27C>T (n.95-27C>T) c.687-8061C>T (n.687-8061C>T) c.1297-27C>T (n.1297-27C>T) n.2534-27C>T n.995-2564C>T | gnomAD v4 |
| 9 | g.133436806_133436807insCCCCCC | CA2692370707 | ADAMTS13 | c.1309-23_1309-22insCCCCCC (n.1309-23_1309-22insCCCCCC) c.1216-23_1216-22insCCCCCC (n.1216-23_1216-22insCCCCCC) c.565-23_565-22insCCCCCC (n.565-23_565-22insCCCCCC) c.*113-23_*113-22insCCCCCC (n.*113-23_*113-22insCCCCCC) n.974-2560_974-2559insCCCCCC c.*593-23_*593-22insCCCCCC (n.*593-23_*593-22insCCCCCC) n.993-2560_993-2559insCCCCCC c.919-23_919-22insCCCCCC (n.919-23_919-22insCCCCCC) c.325-23_325-22insCCCCCC (n.325-23_325-22insCCCCCC) c.319-23_319-22insCCCCCC (n.319-23_319-22insCCCCCC) c.-27-23_-27-22insCCCCCC (n.-27-23_-27-22insCCCCCC) c.95-23_95-22insCCCCCC (n.95-23_95-22insCCCCCC) c.687-8057_687-8056insCCCCCC (n.687-8057_687-8056insCCCCCC) c.1297-23_1297-22insCCCCCC (n.1297-23_1297-22insCCCCCC) n.2534-23_2534-22insCCCCCC n.995-2560_995-2559insCCCCCC | gnomAD v4 |
| 9 | g.133436806_133436807insCCCCCCC | CA2692370703 | ADAMTS13 | c.1309-23_1309-22insCCCCCCC (n.1309-23_1309-22insCCCCCCC) c.1216-23_1216-22insCCCCCCC (n.1216-23_1216-22insCCCCCCC) c.565-23_565-22insCCCCCCC (n.565-23_565-22insCCCCCCC) c.*113-23_*113-22insCCCCCCC (n.*113-23_*113-22insCCCCCCC) n.974-2560_974-2559insCCCCCCC c.*593-23_*593-22insCCCCCCC (n.*593-23_*593-22insCCCCCCC) n.993-2560_993-2559insCCCCCCC c.919-23_919-22insCCCCCCC (n.919-23_919-22insCCCCCCC) c.325-23_325-22insCCCCCCC (n.325-23_325-22insCCCCCCC) c.319-23_319-22insCCCCCCC (n.319-23_319-22insCCCCCCC) c.-27-23_-27-22insCCCCCCC (n.-27-23_-27-22insCCCCCCC) c.95-23_95-22insCCCCCCC (n.95-23_95-22insCCCCCCC) c.687-8057_687-8056insCCCCCCC (n.687-8057_687-8056insCCCCCCC) c.1297-23_1297-22insCCCCCCC (n.1297-23_1297-22insCCCCCCC) n.2534-23_2534-22insCCCCCCC n.995-2560_995-2559insCCCCCCC | gnomAD v4 |
| 9 | g.133436806_133436807insCCCCCCCCC | CA2692370679 | ADAMTS13 | c.1309-23_1309-22insCCCCCCCCC (n.1309-23_1309-22insCCCCCCCCC) c.1216-23_1216-22insCCCCCCCCC (n.1216-23_1216-22insCCCCCCCCC) c.565-23_565-22insCCCCCCCCC (n.565-23_565-22insCCCCCCCCC) c.*113-23_*113-22insCCCCCCCCC (n.*113-23_*113-22insCCCCCCCCC) n.974-2560_974-2559insCCCCCCCCC c.*593-23_*593-22insCCCCCCCCC (n.*593-23_*593-22insCCCCCCCCC) n.993-2560_993-2559insCCCCCCCCC c.919-23_919-22insCCCCCCCCC (n.919-23_919-22insCCCCCCCCC) c.325-23_325-22insCCCCCCCCC (n.325-23_325-22insCCCCCCCCC) c.319-23_319-22insCCCCCCCCC (n.319-23_319-22insCCCCCCCCC) c.-27-23_-27-22insCCCCCCCCC (n.-27-23_-27-22insCCCCCCCCC) c.95-23_95-22insCCCCCCCCC (n.95-23_95-22insCCCCCCCCC) c.687-8057_687-8056insCCCCCCCCC (n.687-8057_687-8056insCCCCCCCCC) c.1297-23_1297-22insCCCCCCCCC (n.1297-23_1297-22insCCCCCCCCC) n.2534-23_2534-22insCCCCCCCCC n.995-2560_995-2559insCCCCCCCCC | gnomAD v4 |
| 9 | g.133436806_133436807insCCCCCCGCCCCC | CA2692370711 | ADAMTS13 | c.1309-23_1309-22insCCCCCCGCCCCC (n.1309-23_1309-22insCCCCCCGCCCCC) c.1216-23_1216-22insCCCCCCGCCCCC (n.1216-23_1216-22insCCCCCCGCCCCC) c.565-23_565-22insCCCCCCGCCCCC (n.565-23_565-22insCCCCCCGCCCCC) c.*113-23_*113-22insCCCCCCGCCCCC (n.*113-23_*113-22insCCCCCCGCCCCC) n.974-2560_974-2559insCCCCCCGCCCCC c.*593-23_*593-22insCCCCCCGCCCCC (n.*593-23_*593-22insCCCCCCGCCCCC) n.993-2560_993-2559insCCCCCCGCCCCC c.919-23_919-22insCCCCCCGCCCCC (n.919-23_919-22insCCCCCCGCCCCC) c.325-23_325-22insCCCCCCGCCCCC (n.325-23_325-22insCCCCCCGCCCCC) c.319-23_319-22insCCCCCCGCCCCC (n.319-23_319-22insCCCCCCGCCCCC) c.-27-23_-27-22insCCCCCCGCCCCC (n.-27-23_-27-22insCCCCCCGCCCCC) c.95-23_95-22insCCCCCCGCCCCC (n.95-23_95-22insCCCCCCGCCCCC) c.687-8057_687-8056insCCCCCCGCCCCC (n.687-8057_687-8056insCCCCCCGCCCCC) c.1297-23_1297-22insCCCCCCGCCCCC (n.1297-23_1297-22insCCCCCCGCCCCC) n.2534-23_2534-22insCCCCCCGCCCCC n.995-2560_995-2559insCCCCCCGCCCCC | gnomAD v4 |
| 9 | g.133436806_133436807insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA860755395 | ADAMTS13 | c.1309-23_1309-22insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.1309-23_1309-22insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.1216-23_1216-22insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.1216-23_1216-22insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.565-23_565-22insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.565-23_565-22insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.*113-23_*113-22insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.*113-23_*113-22insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) n.974-2560_974-2559insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC c.*593-23_*593-22insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.*593-23_*593-22insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) n.993-2560_993-2559insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC c.919-23_919-22insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.919-23_919-22insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.325-23_325-22insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.325-23_325-22insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.319-23_319-22insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.319-23_319-22insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.-27-23_-27-22insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.-27-23_-27-22insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.95-23_95-22insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.95-23_95-22insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.687-8057_687-8056insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.687-8057_687-8056insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.1297-23_1297-22insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.1297-23_1297-22insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) n.2534-23_2534-22insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC n.995-2560_995-2559insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | |
| 9 | g.133436806dup | CA2692370710 | ADAMTS13 | c.1309-23dup (n.1309-23dup) c.1216-23dup (n.1216-23dup) c.565-23dup (n.565-23dup) c.*113-23dup (n.*113-23dup) n.974-2560dup c.*593-23dup (n.*593-23dup) n.993-2560dup c.919-23dup (n.919-23dup) c.325-23dup (n.325-23dup) c.319-23dup (n.319-23dup) c.-27-23dup (n.-27-23dup) c.95-23dup (n.95-23dup) c.687-8057dup (n.687-8057dup) c.1297-23dup (n.1297-23dup) n.2534-23dup n.995-2560dup | gnomAD v4 |
| 9 | g.133436804_133436806dup | CA2692370708 | ADAMTS13 | c.1309-25_1309-23dup (n.1309-25_1309-23dup) c.1216-25_1216-23dup (n.1216-25_1216-23dup) c.565-25_565-23dup (n.565-25_565-23dup) c.*113-25_*113-23dup (n.*113-25_*113-23dup) n.974-2562_974-2560dup c.*593-25_*593-23dup (n.*593-25_*593-23dup) n.993-2562_993-2560dup c.919-25_919-23dup (n.919-25_919-23dup) c.325-25_325-23dup (n.325-25_325-23dup) c.319-25_319-23dup (n.319-25_319-23dup) c.-27-25_-27-23dup (n.-27-25_-27-23dup) c.95-25_95-23dup (n.95-25_95-23dup) c.687-8059_687-8057dup (n.687-8059_687-8057dup) c.1297-25_1297-23dup (n.1297-25_1297-23dup) n.2534-25_2534-23dup n.995-2562_995-2560dup | gnomAD v4 |
| 9 | g.133436802_133436806dup | CA860755393 | ADAMTS13 | c.1309-27_1309-23dup (n.1309-27_1309-23dup) c.1216-27_1216-23dup (n.1216-27_1216-23dup) c.565-27_565-23dup (n.565-27_565-23dup) c.*113-27_*113-23dup (n.*113-27_*113-23dup) n.974-2564_974-2560dup c.*593-27_*593-23dup (n.*593-27_*593-23dup) n.993-2564_993-2560dup c.919-27_919-23dup (n.919-27_919-23dup) c.325-27_325-23dup (n.325-27_325-23dup) c.319-27_319-23dup (n.319-27_319-23dup) c.-27-27_-27-23dup (n.-27-27_-27-23dup) c.95-27_95-23dup (n.95-27_95-23dup) c.687-8061_687-8057dup (n.687-8061_687-8057dup) c.1297-27_1297-23dup (n.1297-27_1297-23dup) n.2534-27_2534-23dup n.995-2564_995-2560dup | |
| 9 | g.133436806del | CA2692370697 | ADAMTS13 | c.1309-23del (n.1309-23del) c.1216-23del (n.1216-23del) c.565-23del (n.565-23del) c.*113-23del (n.*113-23del) n.974-2560del c.*593-23del (n.*593-23del) n.993-2560del c.919-23del (n.919-23del) c.325-23del (n.325-23del) c.319-23del (n.319-23del) c.-27-23del (n.-27-23del) c.95-23del (n.95-23del) c.687-8057del (n.687-8057del) c.1297-23del (n.1297-23del) n.2534-23del n.995-2560del | gnomAD v4 |
| 9 | g.133436803C>A | CA2579500380 | ADAMTS13 | c.1309-26C>A (n.1309-26C>A) c.1216-26C>A (n.1216-26C>A) c.565-26C>A (n.565-26C>A) c.*113-26C>A (n.*113-26C>A) n.974-2563C>A c.*593-26C>A (n.*593-26C>A) n.993-2563C>A c.919-26C>A (n.919-26C>A) c.325-26C>A (n.325-26C>A) c.319-26C>A (n.319-26C>A) c.-27-26C>A (n.-27-26C>A) c.95-26C>A (n.95-26C>A) c.687-8060C>A (n.687-8060C>A) c.1297-26C>A (n.1297-26C>A) n.2534-26C>A n.995-2563C>A | gnomAD v4 |
| 9 | g.133436803C>T | CA2692370714 | ADAMTS13 | c.1309-26C>T (n.1309-26C>T) c.1216-26C>T (n.1216-26C>T) c.565-26C>T (n.565-26C>T) c.*113-26C>T (n.*113-26C>T) n.974-2563C>T c.*593-26C>T (n.*593-26C>T) n.993-2563C>T c.919-26C>T (n.919-26C>T) c.325-26C>T (n.325-26C>T) c.319-26C>T (n.319-26C>T) c.-27-26C>T (n.-27-26C>T) c.95-26C>T (n.95-26C>T) c.687-8060C>T (n.687-8060C>T) c.1297-26C>T (n.1297-26C>T) n.2534-26C>T n.995-2563C>T | gnomAD v4 |
| 9 | g.133436804C>A | CA2692370715 | ADAMTS13 | c.1309-25C>A (n.1309-25C>A) c.1216-25C>A (n.1216-25C>A) c.565-25C>A (n.565-25C>A) c.*113-25C>A (n.*113-25C>A) n.974-2562C>A c.*593-25C>A (n.*593-25C>A) n.993-2562C>A c.919-25C>A (n.919-25C>A) c.325-25C>A (n.325-25C>A) c.319-25C>A (n.319-25C>A) c.-27-25C>A (n.-27-25C>A) c.95-25C>A (n.95-25C>A) c.687-8059C>A (n.687-8059C>A) c.1297-25C>A (n.1297-25C>A) n.2534-25C>A n.995-2562C>A | gnomAD v4 |
| 9 | g.133436804C>T | CA2692370716 | ADAMTS13 | c.1309-25C>T (n.1309-25C>T) c.1216-25C>T (n.1216-25C>T) c.565-25C>T (n.565-25C>T) c.*113-25C>T (n.*113-25C>T) n.974-2562C>T c.*593-25C>T (n.*593-25C>T) n.993-2562C>T c.919-25C>T (n.919-25C>T) c.325-25C>T (n.325-25C>T) c.319-25C>T (n.319-25C>T) c.-27-25C>T (n.-27-25C>T) c.95-25C>T (n.95-25C>T) c.687-8059C>T (n.687-8059C>T) c.1297-25C>T (n.1297-25C>T) n.2534-25C>T n.995-2562C>T | gnomAD v4 |
| 9 | g.133436805C>A | CA2692370719 | ADAMTS13 | c.1309-24C>A (n.1309-24C>A) c.1216-24C>A (n.1216-24C>A) c.565-24C>A (n.565-24C>A) c.*113-24C>A (n.*113-24C>A) n.974-2561C>A c.*593-24C>A (n.*593-24C>A) n.993-2561C>A c.919-24C>A (n.919-24C>A) c.325-24C>A (n.325-24C>A) c.319-24C>A (n.319-24C>A) c.-27-24C>A (n.-27-24C>A) c.95-24C>A (n.95-24C>A) c.687-8058C>A (n.687-8058C>A) c.1297-24C>A (n.1297-24C>A) n.2534-24C>A n.995-2561C>A | gnomAD v4 |
| 9 | g.133436805C= | CA1882673086 | ADAMTS13 | c.1309-24C= (n.1309-24C=) c.1216-24C= (n.1216-24C=) c.565-24C= (n.565-24C=) c.*113-24C= (n.*113-24C=) n.974-2561C= c.*593-24C= (n.*593-24C=) n.993-2561C= c.919-24C= (n.919-24C=) c.325-24C= (n.325-24C=) c.319-24C= (n.319-24C=) c.-27-24C= (n.-27-24C=) c.95-24C= (n.95-24C=) c.687-8058C= (n.687-8058C=) c.1297-24C= (n.1297-24C=) n.2534-24C= n.995-2561C= | |
| 9 | g.133436805C>G | CA860755398 | ADAMTS13 | c.1309-24C>G (n.1309-24C>G) c.1216-24C>G (n.1216-24C>G) c.565-24C>G (n.565-24C>G) c.*113-24C>G (n.*113-24C>G) n.974-2561C>G c.*593-24C>G (n.*593-24C>G) n.993-2561C>G c.919-24C>G (n.919-24C>G) c.325-24C>G (n.325-24C>G) c.319-24C>G (n.319-24C>G) c.-27-24C>G (n.-27-24C>G) c.95-24C>G (n.95-24C>G) c.687-8058C>G (n.687-8058C>G) c.1297-24C>G (n.1297-24C>G) n.2534-24C>G n.995-2561C>G | dbSNP gnomAD v4 |
| 9 | g.133436806C>A | CA860755399 | ADAMTS13 | c.1309-23C>A (n.1309-23C>A) c.1216-23C>A (n.1216-23C>A) c.565-23C>A (n.565-23C>A) c.*113-23C>A (n.*113-23C>A) n.974-2560C>A c.*593-23C>A (n.*593-23C>A) n.993-2560C>A c.919-23C>A (n.919-23C>A) c.325-23C>A (n.325-23C>A) c.319-23C>A (n.319-23C>A) c.-27-23C>A (n.-27-23C>A) c.95-23C>A (n.95-23C>A) c.687-8057C>A (n.687-8057C>A) c.1297-23C>A (n.1297-23C>A) n.2534-23C>A n.995-2560C>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436806C= | CA1882673088 | ADAMTS13 | c.1309-23C= (n.1309-23C=) c.1216-23C= (n.1216-23C=) c.565-23C= (n.565-23C=) c.*113-23C= (n.*113-23C=) n.974-2560C= c.*593-23C= (n.*593-23C=) n.993-2560C= c.919-23C= (n.919-23C=) c.325-23C= (n.325-23C=) c.319-23C= (n.319-23C=) c.-27-23C= (n.-27-23C=) c.95-23C= (n.95-23C=) c.687-8057C= (n.687-8057C=) c.1297-23C= (n.1297-23C=) n.2534-23C= n.995-2560C= | |
| 9 | g.133436806C>T | CA2692370723 | ADAMTS13 | c.1309-23C>T (n.1309-23C>T) c.1216-23C>T (n.1216-23C>T) c.565-23C>T (n.565-23C>T) c.*113-23C>T (n.*113-23C>T) n.974-2560C>T c.*593-23C>T (n.*593-23C>T) n.993-2560C>T c.919-23C>T (n.919-23C>T) c.325-23C>T (n.325-23C>T) c.319-23C>T (n.319-23C>T) c.-27-23C>T (n.-27-23C>T) c.95-23C>T (n.95-23C>T) c.687-8057C>T (n.687-8057C>T) c.1297-23C>T (n.1297-23C>T) n.2534-23C>T n.995-2560C>T | gnomAD v4 |
| 9 | g.133436806_133436807delinsCT | CA1882673087 | ADAMTS13 | c.1309-23_1309-22delinsCT (n.1309-23_1309-22delinsCT) c.1216-23_1216-22delinsCT (n.1216-23_1216-22delinsCT) c.565-23_565-22delinsCT (n.565-23_565-22delinsCT) c.*113-23_*113-22delinsCT (n.*113-23_*113-22delinsCT) n.974-2560_974-2559delinsCT c.*593-23_*593-22delinsCT (n.*593-23_*593-22delinsCT) n.993-2560_993-2559delinsCT c.919-23_919-22delinsCT (n.919-23_919-22delinsCT) c.325-23_325-22delinsCT (n.325-23_325-22delinsCT) c.319-23_319-22delinsCT (n.319-23_319-22delinsCT) c.-27-23_-27-22delinsCT (n.-27-23_-27-22delinsCT) c.95-23_95-22delinsCT (n.95-23_95-22delinsCT) c.687-8057_687-8056delinsCT (n.687-8057_687-8056delinsCT) c.1297-23_1297-22delinsCT (n.1297-23_1297-22delinsCT) n.2534-23_2534-22delinsCT n.995-2560_995-2559delinsCT | |
| 9 | g.133436807del | CA860755402 | ADAMTS13 | c.1309-22del (n.1309-22del) c.1216-22del (n.1216-22del) c.565-22del (n.565-22del) c.*113-22del (n.*113-22del) n.974-2559del c.*593-22del (n.*593-22del) n.993-2559del c.919-22del (n.919-22del) c.325-22del (n.325-22del) c.319-22del (n.319-22del) c.-27-22del (n.-27-22del) c.95-22del (n.95-22del) c.687-8056del (n.687-8056del) c.1297-22del (n.1297-22del) n.2534-22del n.995-2559del | dbSNP gnomAD v4 |
| 9 | g.133436807T>A | CA2692370727 | ADAMTS13 | c.1309-22T>A (n.1309-22T>A) c.1216-22T>A (n.1216-22T>A) c.565-22T>A (n.565-22T>A) c.*113-22T>A (n.*113-22T>A) n.974-2559T>A c.*593-22T>A (n.*593-22T>A) n.993-2559T>A c.919-22T>A (n.919-22T>A) c.325-22T>A (n.325-22T>A) c.319-22T>A (n.319-22T>A) c.-27-22T>A (n.-27-22T>A) c.95-22T>A (n.95-22T>A) c.687-8056T>A (n.687-8056T>A) c.1297-22T>A (n.1297-22T>A) n.2534-22T>A n.995-2559T>A | gnomAD v4 |
| 9 | g.133436807T>C | CA200929510 | ADAMTS13 | c.1309-22T>C (n.1309-22T>C) c.1216-22T>C (n.1216-22T>C) c.565-22T>C (n.565-22T>C) c.*113-22T>C (n.*113-22T>C) n.974-2559T>C c.*593-22T>C (n.*593-22T>C) n.993-2559T>C c.919-22T>C (n.919-22T>C) c.325-22T>C (n.325-22T>C) c.319-22T>C (n.319-22T>C) c.-27-22T>C (n.-27-22T>C) c.95-22T>C (n.95-22T>C) c.687-8056T>C (n.687-8056T>C) c.1297-22T>C (n.1297-22T>C) n.2534-22T>C n.995-2559T>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436807T>G | CA2579500381 | ADAMTS13 | c.1309-22T>G (n.1309-22T>G) c.1216-22T>G (n.1216-22T>G) c.565-22T>G (n.565-22T>G) c.*113-22T>G (n.*113-22T>G) n.974-2559T>G c.*593-22T>G (n.*593-22T>G) n.993-2559T>G c.919-22T>G (n.919-22T>G) c.325-22T>G (n.325-22T>G) c.319-22T>G (n.319-22T>G) c.-27-22T>G (n.-27-22T>G) c.95-22T>G (n.95-22T>G) c.687-8056T>G (n.687-8056T>G) c.1297-22T>G (n.1297-22T>G) n.2534-22T>G n.995-2559T>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436807T= | CA1882673089 | ADAMTS13 | c.1309-22T= (n.1309-22T=) c.1216-22T= (n.1216-22T=) c.565-22T= (n.565-22T=) c.*113-22T= (n.*113-22T=) n.974-2559T= c.*593-22T= (n.*593-22T=) n.993-2559T= c.919-22T= (n.919-22T=) c.325-22T= (n.325-22T=) c.319-22T= (n.319-22T=) c.-27-22T= (n.-27-22T=) c.95-22T= (n.95-22T=) c.687-8056T= (n.687-8056T=) c.1297-22T= (n.1297-22T=) n.2534-22T= n.995-2559T= | |
| 9 | g.133436807_133436808insTC | CA2692370736 | ADAMTS13 | c.1309-22_1309-21insTC (n.1309-22_1309-21insTC) c.1216-22_1216-21insTC (n.1216-22_1216-21insTC) c.565-22_565-21insTC (n.565-22_565-21insTC) c.*113-22_*113-21insTC (n.*113-22_*113-21insTC) n.974-2559_974-2558insTC c.*593-22_*593-21insTC (n.*593-22_*593-21insTC) n.993-2559_993-2558insTC c.919-22_919-21insTC (n.919-22_919-21insTC) c.325-22_325-21insTC (n.325-22_325-21insTC) c.319-22_319-21insTC (n.319-22_319-21insTC) c.-27-22_-27-21insTC (n.-27-22_-27-21insTC) c.95-22_95-21insTC (n.95-22_95-21insTC) c.687-8056_687-8055insTC (n.687-8056_687-8055insTC) c.1297-22_1297-21insTC (n.1297-22_1297-21insTC) n.2534-22_2534-21insTC n.995-2559_995-2558insTC | gnomAD v4 |
| 9 | g.133436807_133436808insGCCCC | CA2692370733 | ADAMTS13 | c.1309-22_1309-21insGCCCC (n.1309-22_1309-21insGCCCC) c.1216-22_1216-21insGCCCC (n.1216-22_1216-21insGCCCC) c.565-22_565-21insGCCCC (n.565-22_565-21insGCCCC) c.*113-22_*113-21insGCCCC (n.*113-22_*113-21insGCCCC) n.974-2559_974-2558insGCCCC c.*593-22_*593-21insGCCCC (n.*593-22_*593-21insGCCCC) n.993-2559_993-2558insGCCCC c.919-22_919-21insGCCCC (n.919-22_919-21insGCCCC) c.325-22_325-21insGCCCC (n.325-22_325-21insGCCCC) c.319-22_319-21insGCCCC (n.319-22_319-21insGCCCC) c.-27-22_-27-21insGCCCC (n.-27-22_-27-21insGCCCC) c.95-22_95-21insGCCCC (n.95-22_95-21insGCCCC) c.687-8056_687-8055insGCCCC (n.687-8056_687-8055insGCCCC) c.1297-22_1297-21insGCCCC (n.1297-22_1297-21insGCCCC) n.2534-22_2534-21insGCCCC n.995-2559_995-2558insGCCCC | gnomAD v4 |
| 9 | g.133436807_133436808insGCCCCC | CA2692370734 | ADAMTS13 | c.1309-22_1309-21insGCCCCC (n.1309-22_1309-21insGCCCCC) c.1216-22_1216-21insGCCCCC (n.1216-22_1216-21insGCCCCC) c.565-22_565-21insGCCCCC (n.565-22_565-21insGCCCCC) c.*113-22_*113-21insGCCCCC (n.*113-22_*113-21insGCCCCC) n.974-2559_974-2558insGCCCCC c.*593-22_*593-21insGCCCCC (n.*593-22_*593-21insGCCCCC) n.993-2559_993-2558insGCCCCC c.919-22_919-21insGCCCCC (n.919-22_919-21insGCCCCC) c.325-22_325-21insGCCCCC (n.325-22_325-21insGCCCCC) c.319-22_319-21insGCCCCC (n.319-22_319-21insGCCCCC) c.-27-22_-27-21insGCCCCC (n.-27-22_-27-21insGCCCCC) c.95-22_95-21insGCCCCC (n.95-22_95-21insGCCCCC) c.687-8056_687-8055insGCCCCC (n.687-8056_687-8055insGCCCCC) c.1297-22_1297-21insGCCCCC (n.1297-22_1297-21insGCCCCC) n.2534-22_2534-21insGCCCCC n.995-2559_995-2558insGCCCCC | gnomAD v4 |
| 9 | g.133436808C>A | CA2692370737 | ADAMTS13 | c.1309-21C>A (n.1309-21C>A) c.1216-21C>A (n.1216-21C>A) c.565-21C>A (n.565-21C>A) c.*113-21C>A (n.*113-21C>A) n.974-2558C>A c.*593-21C>A (n.*593-21C>A) n.993-2558C>A c.919-21C>A (n.919-21C>A) c.325-21C>A (n.325-21C>A) c.319-21C>A (n.319-21C>A) c.-27-21C>A (n.-27-21C>A) c.95-21C>A (n.95-21C>A) c.687-8055C>A (n.687-8055C>A) c.1297-21C>A (n.1297-21C>A) n.2534-21C>A n.995-2558C>A | gnomAD v4 |
| 9 | g.133436809C>A | CA2692370747 | ADAMTS13 | c.1309-20C>A (n.1309-20C>A) c.1216-20C>A (n.1216-20C>A) c.565-20C>A (n.565-20C>A) c.*113-20C>A (n.*113-20C>A) n.974-2557C>A c.*593-20C>A (n.*593-20C>A) n.993-2557C>A c.919-20C>A (n.919-20C>A) c.325-20C>A (n.325-20C>A) c.319-20C>A (n.319-20C>A) c.-27-20C>A (n.-27-20C>A) c.95-20C>A (n.95-20C>A) c.687-8054C>A (n.687-8054C>A) c.1297-20C>A (n.1297-20C>A) n.2534-20C>A n.995-2557C>A | gnomAD v4 |
| 9 | g.133436809C>G | CA2573144322 | ADAMTS13 | c.1309-20C>G (n.1309-20C>G) c.1216-20C>G (n.1216-20C>G) c.565-20C>G (n.565-20C>G) c.*113-20C>G (n.*113-20C>G) n.974-2557C>G c.*593-20C>G (n.*593-20C>G) n.993-2557C>G c.919-20C>G (n.919-20C>G) c.325-20C>G (n.325-20C>G) c.319-20C>G (n.319-20C>G) c.-27-20C>G (n.-27-20C>G) c.95-20C>G (n.95-20C>G) c.687-8054C>G (n.687-8054C>G) c.1297-20C>G (n.1297-20C>G) n.2534-20C>G n.995-2557C>G | ClinVar dbSNP gnomAD v4 |
| 9 | g.133436809C>T | CA2579500382 | ADAMTS13 | c.1309-20C>T (n.1309-20C>T) c.1216-20C>T (n.1216-20C>T) c.565-20C>T (n.565-20C>T) c.*113-20C>T (n.*113-20C>T) n.974-2557C>T c.*593-20C>T (n.*593-20C>T) n.993-2557C>T c.919-20C>T (n.919-20C>T) c.325-20C>T (n.325-20C>T) c.319-20C>T (n.319-20C>T) c.-27-20C>T (n.-27-20C>T) c.95-20C>T (n.95-20C>T) c.687-8054C>T (n.687-8054C>T) c.1297-20C>T (n.1297-20C>T) n.2534-20C>T n.995-2557C>T | gnomAD v4 |
| 9 | g.133436809_133436810insAC | CA2692370746 | ADAMTS13 | c.1309-20_1309-19insAC (n.1309-20_1309-19insAC) c.1216-20_1216-19insAC (n.1216-20_1216-19insAC) c.565-20_565-19insAC (n.565-20_565-19insAC) c.*113-20_*113-19insAC (n.*113-20_*113-19insAC) n.974-2557_974-2556insAC c.*593-20_*593-19insAC (n.*593-20_*593-19insAC) n.993-2557_993-2556insAC c.919-20_919-19insAC (n.919-20_919-19insAC) c.325-20_325-19insAC (n.325-20_325-19insAC) c.319-20_319-19insAC (n.319-20_319-19insAC) c.-27-20_-27-19insAC (n.-27-20_-27-19insAC) c.95-20_95-19insAC (n.95-20_95-19insAC) c.687-8054_687-8053insAC (n.687-8054_687-8053insAC) c.1297-20_1297-19insAC (n.1297-20_1297-19insAC) n.2534-20_2534-19insAC n.995-2557_995-2556insAC | gnomAD v4 |
| 9 | g.133436809_133436813delinsCTCTG | CA1882673090 | ADAMTS13 | c.1309-20_1309-16delinsCTCTG (n.1309-20_1309-16delinsCTCTG) c.1216-20_1216-16delinsCTCTG (n.1216-20_1216-16delinsCTCTG) c.565-20_565-16delinsCTCTG (n.565-20_565-16delinsCTCTG) c.*113-20_*113-16delinsCTCTG (n.*113-20_*113-16delinsCTCTG) n.974-2557_974-2553delinsCTCTG c.*593-20_*593-16delinsCTCTG (n.*593-20_*593-16delinsCTCTG) n.993-2557_993-2553delinsCTCTG c.919-20_919-16delinsCTCTG (n.919-20_919-16delinsCTCTG) c.325-20_325-16delinsCTCTG (n.325-20_325-16delinsCTCTG) c.319-20_319-16delinsCTCTG (n.319-20_319-16delinsCTCTG) c.-27-20_-27-16delinsCTCTG (n.-27-20_-27-16delinsCTCTG) c.95-20_95-16delinsCTCTG (n.95-20_95-16delinsCTCTG) c.687-8054_687-8050delinsCTCTG (n.687-8054_687-8050delinsCTCTG) c.1297-20_1297-16delinsCTCTG (n.1297-20_1297-16delinsCTCTG) n.2534-20_2534-16delinsCTCTG n.995-2557_995-2553delinsCTCTG | |
| 9 | g.133436810del | CA2692370761 | ADAMTS13 | c.1309-19del (n.1309-19del) c.1216-19del (n.1216-19del) c.565-19del (n.565-19del) c.*113-19del (n.*113-19del) n.974-2556del c.*593-19del (n.*593-19del) n.993-2556del c.919-19del (n.919-19del) c.325-19del (n.325-19del) c.319-19del (n.319-19del) c.-27-19del (n.-27-19del) c.95-19del (n.95-19del) c.687-8053del (n.687-8053del) c.1297-19del (n.1297-19del) n.2534-19del n.995-2556del | gnomAD v4 |
| 9 | g.133436810T>A | CA2692370760 | ADAMTS13 | c.1309-19T>A (n.1309-19T>A) c.1216-19T>A (n.1216-19T>A) c.565-19T>A (n.565-19T>A) c.*113-19T>A (n.*113-19T>A) n.974-2556T>A c.*593-19T>A (n.*593-19T>A) n.993-2556T>A c.919-19T>A (n.919-19T>A) c.325-19T>A (n.325-19T>A) c.319-19T>A (n.319-19T>A) c.-27-19T>A (n.-27-19T>A) c.95-19T>A (n.95-19T>A) c.687-8053T>A (n.687-8053T>A) c.1297-19T>A (n.1297-19T>A) n.2534-19T>A n.995-2556T>A | gnomAD v4 |
| 9 | g.133436810T>C | CA860755412 | ADAMTS13 | c.1309-19T>C (n.1309-19T>C) c.1216-19T>C (n.1216-19T>C) c.565-19T>C (n.565-19T>C) c.*113-19T>C (n.*113-19T>C) n.974-2556T>C c.*593-19T>C (n.*593-19T>C) n.993-2556T>C c.919-19T>C (n.919-19T>C) c.325-19T>C (n.325-19T>C) c.319-19T>C (n.319-19T>C) c.-27-19T>C (n.-27-19T>C) c.95-19T>C (n.95-19T>C) c.687-8053T>C (n.687-8053T>C) c.1297-19T>C (n.1297-19T>C) n.2534-19T>C n.995-2556T>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436810T>G | CA2692370757 | ADAMTS13 | c.1309-19T>G (n.1309-19T>G) c.1216-19T>G (n.1216-19T>G) c.565-19T>G (n.565-19T>G) c.*113-19T>G (n.*113-19T>G) n.974-2556T>G c.*593-19T>G (n.*593-19T>G) n.993-2556T>G c.919-19T>G (n.919-19T>G) c.325-19T>G (n.325-19T>G) c.319-19T>G (n.319-19T>G) c.-27-19T>G (n.-27-19T>G) c.95-19T>G (n.95-19T>G) c.687-8053T>G (n.687-8053T>G) c.1297-19T>G (n.1297-19T>G) n.2534-19T>G n.995-2556T>G | gnomAD v4 |
| 9 | g.133436810T= | CA1882673091 | ADAMTS13 | c.1309-19T= (n.1309-19T=) c.1216-19T= (n.1216-19T=) c.565-19T= (n.565-19T=) c.*113-19T= (n.*113-19T=) n.974-2556T= c.*593-19T= (n.*593-19T=) n.993-2556T= c.919-19T= (n.919-19T=) c.325-19T= (n.325-19T=) c.319-19T= (n.319-19T=) c.-27-19T= (n.-27-19T=) c.95-19T= (n.95-19T=) c.687-8053T= (n.687-8053T=) c.1297-19T= (n.1297-19T=) n.2534-19T= n.995-2556T= | |
| 9 | g.133436810_133436813del | CA860755408 | ADAMTS13 | c.1309-19_1309-16del (n.1309-19_1309-16del) c.1216-19_1216-16del (n.1216-19_1216-16del) c.565-19_565-16del (n.565-19_565-16del) c.*113-19_*113-16del (n.*113-19_*113-16del) n.974-2556_974-2553del c.*593-19_*593-16del (n.*593-19_*593-16del) n.993-2556_993-2553del c.919-19_919-16del (n.919-19_919-16del) c.325-19_325-16del (n.325-19_325-16del) c.319-19_319-16del (n.319-19_319-16del) c.-27-19_-27-16del (n.-27-19_-27-16del) c.95-19_95-16del (n.95-19_95-16del) c.687-8053_687-8050del (n.687-8053_687-8050del) c.1297-19_1297-16del (n.1297-19_1297-16del) n.2534-19_2534-16del n.995-2556_995-2553del | dbSNP gnomAD v4 |
| 9 | g.133436811C>A | CA2692370766 | ADAMTS13 | c.1309-18C>A (n.1309-18C>A) c.1216-18C>A (n.1216-18C>A) c.565-18C>A (n.565-18C>A) c.*113-18C>A (n.*113-18C>A) n.974-2555C>A c.*593-18C>A (n.*593-18C>A) n.993-2555C>A c.919-18C>A (n.919-18C>A) c.325-18C>A (n.325-18C>A) c.319-18C>A (n.319-18C>A) c.-27-18C>A (n.-27-18C>A) c.95-18C>A (n.95-18C>A) c.687-8052C>A (n.687-8052C>A) c.1297-18C>A (n.1297-18C>A) n.2534-18C>A n.995-2555C>A | gnomAD v4 |
| 9 | g.133436811C>T | CA2692370763 | ADAMTS13 | c.1309-18C>T (n.1309-18C>T) c.1216-18C>T (n.1216-18C>T) c.565-18C>T (n.565-18C>T) c.*113-18C>T (n.*113-18C>T) n.974-2555C>T c.*593-18C>T (n.*593-18C>T) n.993-2555C>T c.919-18C>T (n.919-18C>T) c.325-18C>T (n.325-18C>T) c.319-18C>T (n.319-18C>T) c.-27-18C>T (n.-27-18C>T) c.95-18C>T (n.95-18C>T) c.687-8052C>T (n.687-8052C>T) c.1297-18C>T (n.1297-18C>T) n.2534-18C>T n.995-2555C>T | gnomAD v4 |
| 9 | g.133436811_133436813delinsCTG | CA1882673092 | ADAMTS13 | c.1309-18_1309-16delinsCTG (n.1309-18_1309-16delinsCTG) c.1216-18_1216-16delinsCTG (n.1216-18_1216-16delinsCTG) c.565-18_565-16delinsCTG (n.565-18_565-16delinsCTG) c.*113-18_*113-16delinsCTG (n.*113-18_*113-16delinsCTG) n.974-2555_974-2553delinsCTG c.*593-18_*593-16delinsCTG (n.*593-18_*593-16delinsCTG) n.993-2555_993-2553delinsCTG c.919-18_919-16delinsCTG (n.919-18_919-16delinsCTG) c.325-18_325-16delinsCTG (n.325-18_325-16delinsCTG) c.319-18_319-16delinsCTG (n.319-18_319-16delinsCTG) c.-27-18_-27-16delinsCTG (n.-27-18_-27-16delinsCTG) c.95-18_95-16delinsCTG (n.95-18_95-16delinsCTG) c.687-8052_687-8050delinsCTG (n.687-8052_687-8050delinsCTG) c.1297-18_1297-16delinsCTG (n.1297-18_1297-16delinsCTG) n.2534-18_2534-16delinsCTG n.995-2555_995-2553delinsCTG | |
| 9 | g.133436812T>A | CA2692370771 | ADAMTS13 | c.1309-17T>A (n.1309-17T>A) c.1216-17T>A (n.1216-17T>A) c.565-17T>A (n.565-17T>A) c.*113-17T>A (n.*113-17T>A) n.974-2554T>A c.*593-17T>A (n.*593-17T>A) n.993-2554T>A c.919-17T>A (n.919-17T>A) c.325-17T>A (n.325-17T>A) c.319-17T>A (n.319-17T>A) c.-27-17T>A (n.-27-17T>A) c.95-17T>A (n.95-17T>A) c.687-8051T>A (n.687-8051T>A) c.1297-17T>A (n.1297-17T>A) n.2534-17T>A n.995-2554T>A | gnomAD v4 |
| 9 | g.133436812T>C | CA860755418 | ADAMTS13 | c.1309-17T>C (n.1309-17T>C) c.1216-17T>C (n.1216-17T>C) c.565-17T>C (n.565-17T>C) c.*113-17T>C (n.*113-17T>C) n.974-2554T>C c.*593-17T>C (n.*593-17T>C) n.993-2554T>C c.919-17T>C (n.919-17T>C) c.325-17T>C (n.325-17T>C) c.319-17T>C (n.319-17T>C) c.-27-17T>C (n.-27-17T>C) c.95-17T>C (n.95-17T>C) c.687-8051T>C (n.687-8051T>C) c.1297-17T>C (n.1297-17T>C) n.2534-17T>C n.995-2554T>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436812T>G | CA2554478713 | ADAMTS13 | c.1309-17T>G (n.1309-17T>G) c.1216-17T>G (n.1216-17T>G) c.565-17T>G (n.565-17T>G) c.*113-17T>G (n.*113-17T>G) n.974-2554T>G c.*593-17T>G (n.*593-17T>G) n.993-2554T>G c.919-17T>G (n.919-17T>G) c.325-17T>G (n.325-17T>G) c.319-17T>G (n.319-17T>G) c.-27-17T>G (n.-27-17T>G) c.95-17T>G (n.95-17T>G) c.687-8051T>G (n.687-8051T>G) c.1297-17T>G (n.1297-17T>G) n.2534-17T>G n.995-2554T>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436812T= | CA1882673093 | ADAMTS13 | c.1309-17T= (n.1309-17T=) c.1216-17T= (n.1216-17T=) c.565-17T= (n.565-17T=) c.*113-17T= (n.*113-17T=) n.974-2554T= c.*593-17T= (n.*593-17T=) n.993-2554T= c.919-17T= (n.919-17T=) c.325-17T= (n.325-17T=) c.319-17T= (n.319-17T=) c.-27-17T= (n.-27-17T=) c.95-17T= (n.95-17T=) c.687-8051T= (n.687-8051T=) c.1297-17T= (n.1297-17T=) n.2534-17T= n.995-2554T= | |
| 9 | g.133436812_133436813del | CA860755417 | ADAMTS13 | c.1309-17_1309-16del (n.1309-17_1309-16del) c.1216-17_1216-16del (n.1216-17_1216-16del) c.565-17_565-16del (n.565-17_565-16del) c.*113-17_*113-16del (n.*113-17_*113-16del) n.974-2554_974-2553del c.*593-17_*593-16del (n.*593-17_*593-16del) n.993-2554_993-2553del c.919-17_919-16del (n.919-17_919-16del) c.325-17_325-16del (n.325-17_325-16del) c.319-17_319-16del (n.319-17_319-16del) c.-27-17_-27-16del (n.-27-17_-27-16del) c.95-17_95-16del (n.95-17_95-16del) c.687-8051_687-8050del (n.687-8051_687-8050del) c.1297-17_1297-16del (n.1297-17_1297-16del) n.2534-17_2534-16del n.995-2554_995-2553del | dbSNP gnomAD v4 |
| 9 | g.133436813G>A | CA860755424 | ADAMTS13 | c.1309-16G>A (n.1309-16G>A) c.1216-16G>A (n.1216-16G>A) c.565-16G>A (n.565-16G>A) c.*113-16G>A (n.*113-16G>A) n.974-2553G>A c.*593-16G>A (n.*593-16G>A) n.993-2553G>A c.919-16G>A (n.919-16G>A) c.325-16G>A (n.325-16G>A) c.319-16G>A (n.319-16G>A) c.-27-16G>A (n.-27-16G>A) c.95-16G>A (n.95-16G>A) c.687-8050G>A (n.687-8050G>A) c.1297-16G>A (n.1297-16G>A) n.2534-16G>A n.995-2553G>A | gnomAD v4 |
| 9 | g.133436813G>C | CA860755422 | ADAMTS13 | c.1309-16G>C (n.1309-16G>C) c.1216-16G>C (n.1216-16G>C) c.565-16G>C (n.565-16G>C) c.*113-16G>C (n.*113-16G>C) n.974-2553G>C c.*593-16G>C (n.*593-16G>C) n.993-2553G>C c.919-16G>C (n.919-16G>C) c.325-16G>C (n.325-16G>C) c.319-16G>C (n.319-16G>C) c.-27-16G>C (n.-27-16G>C) c.95-16G>C (n.95-16G>C) c.687-8050G>C (n.687-8050G>C) c.1297-16G>C (n.1297-16G>C) n.2534-16G>C n.995-2553G>C | gnomAD v3 gnomAD v4 |
| 9 | g.133436813G>T | CA2692370780 | ADAMTS13 | c.1309-16G>T (n.1309-16G>T) c.1216-16G>T (n.1216-16G>T) c.565-16G>T (n.565-16G>T) c.*113-16G>T (n.*113-16G>T) n.974-2553G>T c.*593-16G>T (n.*593-16G>T) n.993-2553G>T c.919-16G>T (n.919-16G>T) c.325-16G>T (n.325-16G>T) c.319-16G>T (n.319-16G>T) c.-27-16G>T (n.-27-16G>T) c.95-16G>T (n.95-16G>T) c.687-8050G>T (n.687-8050G>T) c.1297-16G>T (n.1297-16G>T) n.2534-16G>T n.995-2553G>T | gnomAD v4 |
| 9 | g.133436813_133436816delinsGCCT | CA1882673094 | ADAMTS13 | c.1309-16_1309-13delinsGCCT (n.1309-16_1309-13delinsGCCT) c.1216-16_1216-13delinsGCCT (n.1216-16_1216-13delinsGCCT) c.565-16_565-13delinsGCCT (n.565-16_565-13delinsGCCT) c.*113-16_*113-13delinsGCCT (n.*113-16_*113-13delinsGCCT) n.974-2553_974-2550delinsGCCT c.*593-16_*593-13delinsGCCT (n.*593-16_*593-13delinsGCCT) n.993-2553_993-2550delinsGCCT c.919-16_919-13delinsGCCT (n.919-16_919-13delinsGCCT) c.325-16_325-13delinsGCCT (n.325-16_325-13delinsGCCT) c.319-16_319-13delinsGCCT (n.319-16_319-13delinsGCCT) c.-27-16_-27-13delinsGCCT (n.-27-16_-27-13delinsGCCT) c.95-16_95-13delinsGCCT (n.95-16_95-13delinsGCCT) c.687-8050_687-8047delinsGCCT (n.687-8050_687-8047delinsGCCT) c.1297-16_1297-13delinsGCCT (n.1297-16_1297-13delinsGCCT) n.2534-16_2534-13delinsGCCT n.995-2553_995-2550delinsGCCT | |
| 9 | g.133436814C>A | CA2692370789 | ADAMTS13 | c.1309-15C>A (n.1309-15C>A) c.1216-15C>A (n.1216-15C>A) c.565-15C>A (n.565-15C>A) c.*113-15C>A (n.*113-15C>A) n.974-2552C>A c.*593-15C>A (n.*593-15C>A) n.993-2552C>A c.919-15C>A (n.919-15C>A) c.325-15C>A (n.325-15C>A) c.319-15C>A (n.319-15C>A) c.-27-15C>A (n.-27-15C>A) c.95-15C>A (n.95-15C>A) c.687-8049C>A (n.687-8049C>A) c.1297-15C>A (n.1297-15C>A) n.2534-15C>A n.995-2552C>A | gnomAD v4 |
| 9 | g.133436814C= | CA1882673095 | ADAMTS13 | c.1309-15C= (n.1309-15C=) c.1216-15C= (n.1216-15C=) c.565-15C= (n.565-15C=) c.*113-15C= (n.*113-15C=) n.974-2552C= c.*593-15C= (n.*593-15C=) n.993-2552C= c.919-15C= (n.919-15C=) c.325-15C= (n.325-15C=) c.319-15C= (n.319-15C=) c.-27-15C= (n.-27-15C=) c.95-15C= (n.95-15C=) c.687-8049C= (n.687-8049C=) c.1297-15C= (n.1297-15C=) n.2534-15C= n.995-2552C= | |
| 9 | g.133436814C>T | CA860755426 | ADAMTS13 | c.1309-15C>T (n.1309-15C>T) c.1216-15C>T (n.1216-15C>T) c.565-15C>T (n.565-15C>T) c.*113-15C>T (n.*113-15C>T) n.974-2552C>T c.*593-15C>T (n.*593-15C>T) n.993-2552C>T c.919-15C>T (n.919-15C>T) c.325-15C>T (n.325-15C>T) c.319-15C>T (n.319-15C>T) c.-27-15C>T (n.-27-15C>T) c.95-15C>T (n.95-15C>T) c.687-8049C>T (n.687-8049C>T) c.1297-15C>T (n.1297-15C>T) n.2534-15C>T n.995-2552C>T | dbSNP gnomAD v4 |
| 9 | g.133436815_133436816insCCCCCCCCCC | CA860755430 | ADAMTS13 | c.1309-14_1309-13insCCCCCCCCCC (n.1309-14_1309-13insCCCCCCCCCC) c.1216-14_1216-13insCCCCCCCCCC (n.1216-14_1216-13insCCCCCCCCCC) c.565-14_565-13insCCCCCCCCCC (n.565-14_565-13insCCCCCCCCCC) c.*113-14_*113-13insCCCCCCCCCC (n.*113-14_*113-13insCCCCCCCCCC) n.974-2551_974-2550insCCCCCCCCCC c.*593-14_*593-13insCCCCCCCCCC (n.*593-14_*593-13insCCCCCCCCCC) n.993-2551_993-2550insCCCCCCCCCC c.919-14_919-13insCCCCCCCCCC (n.919-14_919-13insCCCCCCCCCC) c.325-14_325-13insCCCCCCCCCC (n.325-14_325-13insCCCCCCCCCC) c.319-14_319-13insCCCCCCCCCC (n.319-14_319-13insCCCCCCCCCC) c.-27-14_-27-13insCCCCCCCCCC (n.-27-14_-27-13insCCCCCCCCCC) c.95-14_95-13insCCCCCCCCCC (n.95-14_95-13insCCCCCCCCCC) c.687-8048_687-8047insCCCCCCCCCC (n.687-8048_687-8047insCCCCCCCCCC) c.1297-14_1297-13insCCCCCCCCCC (n.1297-14_1297-13insCCCCCCCCCC) n.2534-14_2534-13insCCCCCCCCCC n.995-2551_995-2550insCCCCCCCCCC | |
| 9 | g.133436820_133436822del | CA860755425 | ADAMTS13 | c.1309-9_1309-7del (n.1309-9_1309-7del) c.1216-9_1216-7del (n.1216-9_1216-7del) c.565-9_565-7del (n.565-9_565-7del) c.*113-9_*113-7del (n.*113-9_*113-7del) n.974-2546_974-2544del c.*593-9_*593-7del (n.*593-9_*593-7del) n.993-2546_993-2544del c.919-9_919-7del (n.919-9_919-7del) c.325-9_325-7del (n.325-9_325-7del) c.319-9_319-7del (n.319-9_319-7del) c.-27-9_-27-7del (n.-27-9_-27-7del) c.95-9_95-7del (n.95-9_95-7del) c.687-8043_687-8041del (n.687-8043_687-8041del) c.1297-9_1297-7del (n.1297-9_1297-7del) n.2534-9_2534-7del n.995-2546_995-2544del | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436815C>A | CA2692370793 | ADAMTS13 | c.1309-14C>A (n.1309-14C>A) c.1216-14C>A (n.1216-14C>A) c.565-14C>A (n.565-14C>A) c.*113-14C>A (n.*113-14C>A) n.974-2551C>A c.*593-14C>A (n.*593-14C>A) n.993-2551C>A c.919-14C>A (n.919-14C>A) c.325-14C>A (n.325-14C>A) c.319-14C>A (n.319-14C>A) c.-27-14C>A (n.-27-14C>A) c.95-14C>A (n.95-14C>A) c.687-8048C>A (n.687-8048C>A) c.1297-14C>A (n.1297-14C>A) n.2534-14C>A n.995-2551C>A | gnomAD v4 |
| 9 | g.133436816del | CA2692370798 | ADAMTS13 | c.1309-13del (n.1309-13del) c.1216-13del (n.1216-13del) c.565-13del (n.565-13del) c.*113-13del (n.*113-13del) n.974-2550del c.*593-13del (n.*593-13del) n.993-2550del c.919-13del (n.919-13del) c.325-13del (n.325-13del) c.319-13del (n.319-13del) c.-27-13del (n.-27-13del) c.95-13del (n.95-13del) c.687-8047del (n.687-8047del) c.1297-13del (n.1297-13del) n.2534-13del n.995-2550del | gnomAD v4 |
| 9 | g.133436816T>A | CA2692370795 | ADAMTS13 | c.1309-13T>A (n.1309-13T>A) c.1216-13T>A (n.1216-13T>A) c.565-13T>A (n.565-13T>A) c.*113-13T>A (n.*113-13T>A) n.974-2550T>A c.*593-13T>A (n.*593-13T>A) n.993-2550T>A c.919-13T>A (n.919-13T>A) c.325-13T>A (n.325-13T>A) c.319-13T>A (n.319-13T>A) c.-27-13T>A (n.-27-13T>A) c.95-13T>A (n.95-13T>A) c.687-8047T>A (n.687-8047T>A) c.1297-13T>A (n.1297-13T>A) n.2534-13T>A n.995-2550T>A | gnomAD v4 |
| 9 | g.133436816T>C | CA860755433 | ADAMTS13 | c.1309-13T>C (n.1309-13T>C) c.1216-13T>C (n.1216-13T>C) c.565-13T>C (n.565-13T>C) c.*113-13T>C (n.*113-13T>C) n.974-2550T>C c.*593-13T>C (n.*593-13T>C) n.993-2550T>C c.919-13T>C (n.919-13T>C) c.325-13T>C (n.325-13T>C) c.319-13T>C (n.319-13T>C) c.-27-13T>C (n.-27-13T>C) c.95-13T>C (n.95-13T>C) c.687-8047T>C (n.687-8047T>C) c.1297-13T>C (n.1297-13T>C) n.2534-13T>C n.995-2550T>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436816T>G | CA200929521 | ADAMTS13 | c.1309-13T>G (n.1309-13T>G) c.1216-13T>G (n.1216-13T>G) c.565-13T>G (n.565-13T>G) c.*113-13T>G (n.*113-13T>G) n.974-2550T>G c.*593-13T>G (n.*593-13T>G) n.993-2550T>G c.919-13T>G (n.919-13T>G) c.325-13T>G (n.325-13T>G) c.319-13T>G (n.319-13T>G) c.-27-13T>G (n.-27-13T>G) c.95-13T>G (n.95-13T>G) c.687-8047T>G (n.687-8047T>G) c.1297-13T>G (n.1297-13T>G) n.2534-13T>G n.995-2550T>G | dbSNP gnomAD v4 |
| 9 | g.133436816T= | CA1882673096 | ADAMTS13 | c.1309-13T= (n.1309-13T=) c.1216-13T= (n.1216-13T=) c.565-13T= (n.565-13T=) c.*113-13T= (n.*113-13T=) n.974-2550T= c.*593-13T= (n.*593-13T=) n.993-2550T= c.919-13T= (n.919-13T=) c.325-13T= (n.325-13T=) c.319-13T= (n.319-13T=) c.-27-13T= (n.-27-13T=) c.95-13T= (n.95-13T=) c.687-8047T= (n.687-8047T=) c.1297-13T= (n.1297-13T=) n.2534-13T= n.995-2550T= | |
| 9 | g.133436817C>A | CA2692370804 | ADAMTS13 | c.1309-12C>A (n.1309-12C>A) c.1216-12C>A (n.1216-12C>A) c.565-12C>A (n.565-12C>A) c.*113-12C>A (n.*113-12C>A) n.974-2549C>A c.*593-12C>A (n.*593-12C>A) n.993-2549C>A c.919-12C>A (n.919-12C>A) c.325-12C>A (n.325-12C>A) c.319-12C>A (n.319-12C>A) c.-27-12C>A (n.-27-12C>A) c.95-12C>A (n.95-12C>A) c.687-8046C>A (n.687-8046C>A) c.1297-12C>A (n.1297-12C>A) n.2534-12C>A n.995-2549C>A | gnomAD v4 |
| 9 | g.133436817C= | CA1882673097 | ADAMTS13 | c.1309-12C= (n.1309-12C=) c.1216-12C= (n.1216-12C=) c.565-12C= (n.565-12C=) c.*113-12C= (n.*113-12C=) n.974-2549C= c.*593-12C= (n.*593-12C=) n.993-2549C= c.919-12C= (n.919-12C=) c.325-12C= (n.325-12C=) c.319-12C= (n.319-12C=) c.-27-12C= (n.-27-12C=) c.95-12C= (n.95-12C=) c.687-8046C= (n.687-8046C=) c.1297-12C= (n.1297-12C=) n.2534-12C= n.995-2549C= | |
| 9 | g.133436817C>T | CA860755435 | ADAMTS13 | c.1309-12C>T (n.1309-12C>T) c.1216-12C>T (n.1216-12C>T) c.565-12C>T (n.565-12C>T) c.*113-12C>T (n.*113-12C>T) n.974-2549C>T c.*593-12C>T (n.*593-12C>T) n.993-2549C>T c.919-12C>T (n.919-12C>T) c.325-12C>T (n.325-12C>T) c.319-12C>T (n.319-12C>T) c.-27-12C>T (n.-27-12C>T) c.95-12C>T (n.95-12C>T) c.687-8046C>T (n.687-8046C>T) c.1297-12C>T (n.1297-12C>T) n.2534-12C>T n.995-2549C>T | dbSNP gnomAD v4 |
| 9 | g.133436818_133436819insCCCCC | CA2692370803 | ADAMTS13 | c.1309-11_1309-10insCCCCC (n.1309-11_1309-10insCCCCC) c.1216-11_1216-10insCCCCC (n.1216-11_1216-10insCCCCC) c.565-11_565-10insCCCCC (n.565-11_565-10insCCCCC) c.*113-11_*113-10insCCCCC (n.*113-11_*113-10insCCCCC) n.974-2548_974-2547insCCCCC c.*593-11_*593-10insCCCCC (n.*593-11_*593-10insCCCCC) n.993-2548_993-2547insCCCCC c.919-11_919-10insCCCCC (n.919-11_919-10insCCCCC) c.325-11_325-10insCCCCC (n.325-11_325-10insCCCCC) c.319-11_319-10insCCCCC (n.319-11_319-10insCCCCC) c.-27-11_-27-10insCCCCC (n.-27-11_-27-10insCCCCC) c.95-11_95-10insCCCCC (n.95-11_95-10insCCCCC) c.687-8045_687-8044insCCCCC (n.687-8045_687-8044insCCCCC) c.1297-11_1297-10insCCCCC (n.1297-11_1297-10insCCCCC) n.2534-11_2534-10insCCCCC n.995-2548_995-2547insCCCCC | gnomAD v4 |
| 9 | g.133436818C>A | CA2692370810 | ADAMTS13 | c.1309-11C>A (n.1309-11C>A) c.1216-11C>A (n.1216-11C>A) c.565-11C>A (n.565-11C>A) c.*113-11C>A (n.*113-11C>A) n.974-2548C>A c.*593-11C>A (n.*593-11C>A) n.993-2548C>A c.919-11C>A (n.919-11C>A) c.325-11C>A (n.325-11C>A) c.319-11C>A (n.319-11C>A) c.-27-11C>A (n.-27-11C>A) c.95-11C>A (n.95-11C>A) c.687-8045C>A (n.687-8045C>A) c.1297-11C>A (n.1297-11C>A) n.2534-11C>A n.995-2548C>A | gnomAD v4 |
| 9 | g.133436818C= | CA1882673098 | ADAMTS13 | c.1309-11C= (n.1309-11C=) c.1216-11C= (n.1216-11C=) c.565-11C= (n.565-11C=) c.*113-11C= (n.*113-11C=) n.974-2548C= c.*593-11C= (n.*593-11C=) n.993-2548C= c.919-11C= (n.919-11C=) c.325-11C= (n.325-11C=) c.319-11C= (n.319-11C=) c.-27-11C= (n.-27-11C=) c.95-11C= (n.95-11C=) c.687-8045C= (n.687-8045C=) c.1297-11C= (n.1297-11C=) n.2534-11C= n.995-2548C= | |
| 9 | g.133436818C>T | CA860755438 | ADAMTS13 | c.1309-11C>T (n.1309-11C>T) c.1216-11C>T (n.1216-11C>T) c.565-11C>T (n.565-11C>T) c.*113-11C>T (n.*113-11C>T) n.974-2548C>T c.*593-11C>T (n.*593-11C>T) n.993-2548C>T c.919-11C>T (n.919-11C>T) c.325-11C>T (n.325-11C>T) c.319-11C>T (n.319-11C>T) c.-27-11C>T (n.-27-11C>T) c.95-11C>T (n.95-11C>T) c.687-8045C>T (n.687-8045C>T) c.1297-11C>T (n.1297-11C>T) n.2534-11C>T n.995-2548C>T | dbSNP gnomAD v4 |
| 9 | g.133436819T>C | CA860755443 | ADAMTS13 | c.1309-10T>C (n.1309-10T>C) c.1216-10T>C (n.1216-10T>C) c.565-10T>C (n.565-10T>C) c.*113-10T>C (n.*113-10T>C) n.974-2547T>C c.*593-10T>C (n.*593-10T>C) n.993-2547T>C c.919-10T>C (n.919-10T>C) c.325-10T>C (n.325-10T>C) c.319-10T>C (n.319-10T>C) c.-27-10T>C (n.-27-10T>C) c.95-10T>C (n.95-10T>C) c.687-8044T>C (n.687-8044T>C) c.1297-10T>C (n.1297-10T>C) n.2534-10T>C n.995-2547T>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436819T>G | CA2692370817 | ADAMTS13 | c.1309-10T>G (n.1309-10T>G) c.1216-10T>G (n.1216-10T>G) c.565-10T>G (n.565-10T>G) c.*113-10T>G (n.*113-10T>G) n.974-2547T>G c.*593-10T>G (n.*593-10T>G) n.993-2547T>G c.919-10T>G (n.919-10T>G) c.325-10T>G (n.325-10T>G) c.319-10T>G (n.319-10T>G) c.-27-10T>G (n.-27-10T>G) c.95-10T>G (n.95-10T>G) c.687-8044T>G (n.687-8044T>G) c.1297-10T>G (n.1297-10T>G) n.2534-10T>G n.995-2547T>G | gnomAD v4 |
| 9 | g.133436819T= | CA1882673099 | ADAMTS13 | c.1309-10T= (n.1309-10T=) c.1216-10T= (n.1216-10T=) c.565-10T= (n.565-10T=) c.*113-10T= (n.*113-10T=) n.974-2547T= c.*593-10T= (n.*593-10T=) n.993-2547T= c.919-10T= (n.919-10T=) c.325-10T= (n.325-10T=) c.319-10T= (n.319-10T=) c.-27-10T= (n.-27-10T=) c.95-10T= (n.95-10T=) c.687-8044T= (n.687-8044T=) c.1297-10T= (n.1297-10T=) n.2534-10T= n.995-2547T= | |
| 9 | g.133436820C>A | CA2692370829 | ADAMTS13 | c.1309-9C>A (n.1309-9C>A) c.1216-9C>A (n.1216-9C>A) c.565-9C>A (n.565-9C>A) c.*113-9C>A (n.*113-9C>A) n.974-2546C>A c.*593-9C>A (n.*593-9C>A) n.993-2546C>A c.919-9C>A (n.919-9C>A) c.325-9C>A (n.325-9C>A) c.319-9C>A (n.319-9C>A) c.-27-9C>A (n.-27-9C>A) c.95-9C>A (n.95-9C>A) c.687-8043C>A (n.687-8043C>A) c.1297-9C>A (n.1297-9C>A) n.2534-9C>A n.995-2546C>A | gnomAD v4 |
| 9 | g.133436820C= | CA1882673100 | ADAMTS13 | c.1309-9C= (n.1309-9C=) c.1216-9C= (n.1216-9C=) c.565-9C= (n.565-9C=) c.*113-9C= (n.*113-9C=) n.974-2546C= c.*593-9C= (n.*593-9C=) n.993-2546C= c.919-9C= (n.919-9C=) c.325-9C= (n.325-9C=) c.319-9C= (n.319-9C=) c.-27-9C= (n.-27-9C=) c.95-9C= (n.95-9C=) c.687-8043C= (n.687-8043C=) c.1297-9C= (n.1297-9C=) n.2534-9C= n.995-2546C= | |
| 9 | g.133436820C>G | CA2692370832 | ADAMTS13 | c.1309-9C>G (n.1309-9C>G) c.1216-9C>G (n.1216-9C>G) c.565-9C>G (n.565-9C>G) c.*113-9C>G (n.*113-9C>G) n.974-2546C>G c.*593-9C>G (n.*593-9C>G) n.993-2546C>G c.919-9C>G (n.919-9C>G) c.325-9C>G (n.325-9C>G) c.319-9C>G (n.319-9C>G) c.-27-9C>G (n.-27-9C>G) c.95-9C>G (n.95-9C>G) c.687-8043C>G (n.687-8043C>G) c.1297-9C>G (n.1297-9C>G) n.2534-9C>G n.995-2546C>G | gnomAD v4 |
| 9 | g.133436820C>T | CA200929524 | ADAMTS13 | c.1309-9C>T (n.1309-9C>T) c.1216-9C>T (n.1216-9C>T) c.565-9C>T (n.565-9C>T) c.*113-9C>T (n.*113-9C>T) n.974-2546C>T c.*593-9C>T (n.*593-9C>T) n.993-2546C>T c.919-9C>T (n.919-9C>T) c.325-9C>T (n.325-9C>T) c.319-9C>T (n.319-9C>T) c.-27-9C>T (n.-27-9C>T) c.95-9C>T (n.95-9C>T) c.687-8043C>T (n.687-8043C>T) c.1297-9C>T (n.1297-9C>T) n.2534-9C>T n.995-2546C>T | dbSNP gnomAD v4 COSMIC |
| 9 | g.133436821_133436822insCCCCCC | CA860755450 | ADAMTS13 | c.1309-8_1309-7insCCCCCC (n.1309-8_1309-7insCCCCCC) c.1216-8_1216-7insCCCCCC (n.1216-8_1216-7insCCCCCC) c.565-8_565-7insCCCCCC (n.565-8_565-7insCCCCCC) c.*113-8_*113-7insCCCCCC (n.*113-8_*113-7insCCCCCC) n.974-2545_974-2544insCCCCCC c.*593-8_*593-7insCCCCCC (n.*593-8_*593-7insCCCCCC) n.993-2545_993-2544insCCCCCC c.919-8_919-7insCCCCCC (n.919-8_919-7insCCCCCC) c.325-8_325-7insCCCCCC (n.325-8_325-7insCCCCCC) c.319-8_319-7insCCCCCC (n.319-8_319-7insCCCCCC) c.-27-8_-27-7insCCCCCC (n.-27-8_-27-7insCCCCCC) c.95-8_95-7insCCCCCC (n.95-8_95-7insCCCCCC) c.687-8042_687-8041insCCCCCC (n.687-8042_687-8041insCCCCCC) c.1297-8_1297-7insCCCCCC (n.1297-8_1297-7insCCCCCC) n.2534-8_2534-7insCCCCCC n.995-2545_995-2544insCCCCCC | dbSNP gnomAD v4 |
| 9 | g.133436821C>A | CA2692370833 | ADAMTS13 | c.1309-8C>A (n.1309-8C>A) c.1216-8C>A (n.1216-8C>A) c.565-8C>A (n.565-8C>A) c.*113-8C>A (n.*113-8C>A) n.974-2545C>A c.*593-8C>A (n.*593-8C>A) n.993-2545C>A c.919-8C>A (n.919-8C>A) c.325-8C>A (n.325-8C>A) c.319-8C>A (n.319-8C>A) c.-27-8C>A (n.-27-8C>A) c.95-8C>A (n.95-8C>A) c.687-8042C>A (n.687-8042C>A) c.1297-8C>A (n.1297-8C>A) n.2534-8C>A n.995-2545C>A | gnomAD v4 |
| 9 | g.133436821C>T | CA2692370835 | ADAMTS13 | c.1309-8C>T (n.1309-8C>T) c.1216-8C>T (n.1216-8C>T) c.565-8C>T (n.565-8C>T) c.*113-8C>T (n.*113-8C>T) n.974-2545C>T c.*593-8C>T (n.*593-8C>T) n.993-2545C>T c.919-8C>T (n.919-8C>T) c.325-8C>T (n.325-8C>T) c.319-8C>T (n.319-8C>T) c.-27-8C>T (n.-27-8C>T) c.95-8C>T (n.95-8C>T) c.687-8042C>T (n.687-8042C>T) c.1297-8C>T (n.1297-8C>T) n.2534-8C>T n.995-2545C>T | gnomAD v4 |
| 9 | g.133436821_133436824delinsCTGG | CA1882673101 | ADAMTS13 | c.1309-8_1309-5delinsCTGG (n.1309-8_1309-5delinsCTGG) c.1216-8_1216-5delinsCTGG (n.1216-8_1216-5delinsCTGG) c.565-8_565-5delinsCTGG (n.565-8_565-5delinsCTGG) c.*113-8_*113-5delinsCTGG (n.*113-8_*113-5delinsCTGG) n.974-2545_974-2542delinsCTGG c.*593-8_*593-5delinsCTGG (n.*593-8_*593-5delinsCTGG) n.993-2545_993-2542delinsCTGG c.919-8_919-5delinsCTGG (n.919-8_919-5delinsCTGG) c.325-8_325-5delinsCTGG (n.325-8_325-5delinsCTGG) c.319-8_319-5delinsCTGG (n.319-8_319-5delinsCTGG) c.-27-8_-27-5delinsCTGG (n.-27-8_-27-5delinsCTGG) c.95-8_95-5delinsCTGG (n.95-8_95-5delinsCTGG) c.687-8042_687-8039delinsCTGG (n.687-8042_687-8039delinsCTGG) c.1297-8_1297-5delinsCTGG (n.1297-8_1297-5delinsCTGG) n.2534-8_2534-5delinsCTGG n.995-2545_995-2542delinsCTGG | |
| 9 | g.133436822T>A | CA2692370858 | ADAMTS13 | c.1309-7T>A (n.1309-7T>A) c.1216-7T>A (n.1216-7T>A) c.565-7T>A (n.565-7T>A) c.*113-7T>A (n.*113-7T>A) n.974-2544T>A c.*593-7T>A (n.*593-7T>A) n.993-2544T>A c.919-7T>A (n.919-7T>A) c.325-7T>A (n.325-7T>A) c.319-7T>A (n.319-7T>A) c.-27-7T>A (n.-27-7T>A) c.95-7T>A (n.95-7T>A) c.687-8041T>A (n.687-8041T>A) c.1297-7T>A (n.1297-7T>A) n.2534-7T>A n.995-2544T>A | gnomAD v4 |
| 9 | g.133436822T>C | CA200929526 | ADAMTS13 | c.1309-7T>C (n.1309-7T>C) c.1216-7T>C (n.1216-7T>C) c.565-7T>C (n.565-7T>C) c.*113-7T>C (n.*113-7T>C) n.974-2544T>C c.*593-7T>C (n.*593-7T>C) n.993-2544T>C c.919-7T>C (n.919-7T>C) c.325-7T>C (n.325-7T>C) c.319-7T>C (n.319-7T>C) c.-27-7T>C (n.-27-7T>C) c.95-7T>C (n.95-7T>C) c.687-8041T>C (n.687-8041T>C) c.1297-7T>C (n.1297-7T>C) n.2534-7T>C n.995-2544T>C | dbSNP gnomAD v4 |
| 9 | g.133436822T>G | CA2692370861 | ADAMTS13 | c.1309-7T>G (n.1309-7T>G) c.1216-7T>G (n.1216-7T>G) c.565-7T>G (n.565-7T>G) c.*113-7T>G (n.*113-7T>G) n.974-2544T>G c.*593-7T>G (n.*593-7T>G) n.993-2544T>G c.919-7T>G (n.919-7T>G) c.325-7T>G (n.325-7T>G) c.319-7T>G (n.319-7T>G) c.-27-7T>G (n.-27-7T>G) c.95-7T>G (n.95-7T>G) c.687-8041T>G (n.687-8041T>G) c.1297-7T>G (n.1297-7T>G) n.2534-7T>G n.995-2544T>G | gnomAD v4 |
| 9 | g.133436822T= | CA1882673102 | ADAMTS13 | c.1309-7T= (n.1309-7T=) c.1216-7T= (n.1216-7T=) c.565-7T= (n.565-7T=) c.*113-7T= (n.*113-7T=) n.974-2544T= c.*593-7T= (n.*593-7T=) n.993-2544T= c.919-7T= (n.919-7T=) c.325-7T= (n.325-7T=) c.319-7T= (n.319-7T=) c.-27-7T= (n.-27-7T=) c.95-7T= (n.95-7T=) c.687-8041T= (n.687-8041T=) c.1297-7T= (n.1297-7T=) n.2534-7T= n.995-2544T= | |
| 9 | g.133436822_133436824del | CA860755453 | ADAMTS13 | c.1309-7_1309-5del (n.1309-7_1309-5del) c.1216-7_1216-5del (n.1216-7_1216-5del) c.565-7_565-5del (n.565-7_565-5del) c.*113-7_*113-5del (n.*113-7_*113-5del) n.974-2544_974-2542del c.*593-7_*593-5del (n.*593-7_*593-5del) n.993-2544_993-2542del c.919-7_919-5del (n.919-7_919-5del) c.325-7_325-5del (n.325-7_325-5del) c.319-7_319-5del (n.319-7_319-5del) c.-27-7_-27-5del (n.-27-7_-27-5del) c.95-7_95-5del (n.95-7_95-5del) c.687-8041_687-8039del (n.687-8041_687-8039del) c.1297-7_1297-5del (n.1297-7_1297-5del) n.2534-7_2534-5del n.995-2544_995-2542del | dbSNP |
| 9 | g.133436823G>A | CA2692370866 | ADAMTS13 | c.1309-6G>A (n.1309-6G>A) c.1216-6G>A (n.1216-6G>A) c.565-6G>A (n.565-6G>A) c.*113-6G>A (n.*113-6G>A) n.974-2543G>A c.*593-6G>A (n.*593-6G>A) n.993-2543G>A c.919-6G>A (n.919-6G>A) c.325-6G>A (n.325-6G>A) c.319-6G>A (n.319-6G>A) c.-27-6G>A (n.-27-6G>A) c.95-6G>A (n.95-6G>A) c.687-8040G>A (n.687-8040G>A) c.1297-6G>A (n.1297-6G>A) n.2534-6G>A n.995-2543G>A | gnomAD v4 |
| 9 | g.133436823G>T | CA2692370869 | ADAMTS13 | c.1309-6G>T (n.1309-6G>T) c.1216-6G>T (n.1216-6G>T) c.565-6G>T (n.565-6G>T) c.*113-6G>T (n.*113-6G>T) n.974-2543G>T c.*593-6G>T (n.*593-6G>T) n.993-2543G>T c.919-6G>T (n.919-6G>T) c.325-6G>T (n.325-6G>T) c.319-6G>T (n.319-6G>T) c.-27-6G>T (n.-27-6G>T) c.95-6G>T (n.95-6G>T) c.687-8040G>T (n.687-8040G>T) c.1297-6G>T (n.1297-6G>T) n.2534-6G>T n.995-2543G>T | gnomAD v4 |
| 9 | g.133436824G>A | CA2692370870 | ADAMTS13 | c.1309-5G>A (n.1309-5G>A) c.1216-5G>A (n.1216-5G>A) c.565-5G>A (n.565-5G>A) c.*113-5G>A (n.*113-5G>A) n.974-2542G>A c.*593-5G>A (n.*593-5G>A) n.993-2542G>A c.919-5G>A (n.919-5G>A) c.325-5G>A (n.325-5G>A) c.319-5G>A (n.319-5G>A) c.-27-5G>A (n.-27-5G>A) c.95-5G>A (n.95-5G>A) c.687-8039G>A (n.687-8039G>A) c.1297-5G>A (n.1297-5G>A) n.2534-5G>A n.995-2542G>A | gnomAD v4 |
| 9 | g.133436824G= | CA1882673103 | ADAMTS13 | c.1309-5G= (n.1309-5G=) c.1216-5G= (n.1216-5G=) c.565-5G= (n.565-5G=) c.*113-5G= (n.*113-5G=) n.974-2542G= c.*593-5G= (n.*593-5G=) n.993-2542G= c.919-5G= (n.919-5G=) c.325-5G= (n.325-5G=) c.319-5G= (n.319-5G=) c.-27-5G= (n.-27-5G=) c.95-5G= (n.95-5G=) c.687-8039G= (n.687-8039G=) c.1297-5G= (n.1297-5G=) n.2534-5G= n.995-2542G= | |
| 9 | g.133436824G>T | CA860755457 | ADAMTS13 | c.1309-5G>T (n.1309-5G>T) c.1216-5G>T (n.1216-5G>T) c.565-5G>T (n.565-5G>T) c.*113-5G>T (n.*113-5G>T) n.974-2542G>T c.*593-5G>T (n.*593-5G>T) n.993-2542G>T c.919-5G>T (n.919-5G>T) c.325-5G>T (n.325-5G>T) c.319-5G>T (n.319-5G>T) c.-27-5G>T (n.-27-5G>T) c.95-5G>T (n.95-5G>T) c.687-8039G>T (n.687-8039G>T) c.1297-5G>T (n.1297-5G>T) n.2534-5G>T n.995-2542G>T | dbSNP gnomAD v4 |
| 9 | g.133436825C>A | CA2692370882 | ADAMTS13 | c.1309-4C>A (n.1309-4C>A) c.1216-4C>A (n.1216-4C>A) c.565-4C>A (n.565-4C>A) c.*113-4C>A (n.*113-4C>A) n.974-2541C>A c.*593-4C>A (n.*593-4C>A) n.993-2541C>A c.919-4C>A (n.919-4C>A) c.325-4C>A (n.325-4C>A) c.319-4C>A (n.319-4C>A) c.-27-4C>A (n.-27-4C>A) c.95-4C>A (n.95-4C>A) c.687-8038C>A (n.687-8038C>A) c.1297-4C>A (n.1297-4C>A) n.2534-4C>A n.995-2541C>A | gnomAD v4 |
| 9 | g.133436825C>G | CA2573050849 | ADAMTS13 | c.1309-4C>G (n.1309-4C>G) c.1216-4C>G (n.1216-4C>G) c.565-4C>G (n.565-4C>G) c.*113-4C>G (n.*113-4C>G) n.974-2541C>G c.*593-4C>G (n.*593-4C>G) n.993-2541C>G c.919-4C>G (n.919-4C>G) c.325-4C>G (n.325-4C>G) c.319-4C>G (n.319-4C>G) c.-27-4C>G (n.-27-4C>G) c.95-4C>G (n.95-4C>G) c.687-8038C>G (n.687-8038C>G) c.1297-4C>G (n.1297-4C>G) n.2534-4C>G n.995-2541C>G | gnomAD v4 |
| 9 | g.133436825C>T | CA2692370880 | ADAMTS13 | c.1309-4C>T (n.1309-4C>T) c.1216-4C>T (n.1216-4C>T) c.565-4C>T (n.565-4C>T) c.*113-4C>T (n.*113-4C>T) n.974-2541C>T c.*593-4C>T (n.*593-4C>T) n.993-2541C>T c.919-4C>T (n.919-4C>T) c.325-4C>T (n.325-4C>T) c.319-4C>T (n.319-4C>T) c.-27-4C>T (n.-27-4C>T) c.95-4C>T (n.95-4C>T) c.687-8038C>T (n.687-8038C>T) c.1297-4C>T (n.1297-4C>T) n.2534-4C>T n.995-2541C>T | gnomAD v4 |
| 9 | g.133436825_133436827del | CA2692370873 | ADAMTS13 | c.1309-4_1309-2del (n.1309-4_1309-2del) c.1216-4_1216-2del (n.1216-4_1216-2del) c.565-4_565-2del (n.565-4_565-2del) c.*113-4_*113-2del (n.*113-4_*113-2del) n.974-2541_974-2539del c.*593-4_*593-2del (n.*593-4_*593-2del) n.993-2541_993-2539del c.919-4_919-2del (n.919-4_919-2del) c.325-4_325-2del (n.325-4_325-2del) c.319-4_319-2del (n.319-4_319-2del) c.-27-4_-27-2del (n.-27-4_-27-2del) c.95-4_95-2del (n.95-4_95-2del) c.687-8038_687-8036del (n.687-8038_687-8036del) c.1297-4_1297-2del (n.1297-4_1297-2del) n.2534-4_2534-2del n.995-2541_995-2539del | gnomAD v4 |
| 9 | g.133436825_133436906del | CA2692370883 | ADAMTS13 | c.1309-4_1386del c.1216-4_1293del c.565-4_642del c.*113-4_*190del n.974-2541_974-2460del c.*593-4_*670del n.993-2541_993-2460del c.919-4_996del c.325-4_402del c.319-4_396del c.-27-4_51del c.95-4_172del c.687-8038_687-7957del (n.687-8038_687-7957del) c.1297-4_1374del n.2534-4_2611del n.995-2541_995-2460del | gnomAD v4 |
| 9 | g.133436826C>A | CA2692370885 | ADAMTS13 | c.1309-3C>A (n.1309-3C>A) c.1216-3C>A (n.1216-3C>A) c.565-3C>A (n.565-3C>A) c.*113-3C>A (n.*113-3C>A) n.974-2540C>A c.*593-3C>A (n.*593-3C>A) n.993-2540C>A c.919-3C>A (n.919-3C>A) c.325-3C>A (n.325-3C>A) c.319-3C>A (n.319-3C>A) c.-27-3C>A (n.-27-3C>A) c.95-3C>A (n.95-3C>A) c.687-8037C>A (n.687-8037C>A) c.1297-3C>A (n.1297-3C>A) n.2534-3C>A n.995-2540C>A | gnomAD v4 |
| 9 | g.133436826C>T | CA2692370887 | ADAMTS13 | c.1309-3C>T (n.1309-3C>T) c.1216-3C>T (n.1216-3C>T) c.565-3C>T (n.565-3C>T) c.*113-3C>T (n.*113-3C>T) n.974-2540C>T c.*593-3C>T (n.*593-3C>T) n.993-2540C>T c.919-3C>T (n.919-3C>T) c.325-3C>T (n.325-3C>T) c.319-3C>T (n.319-3C>T) c.-27-3C>T (n.-27-3C>T) c.95-3C>T (n.95-3C>T) c.687-8037C>T (n.687-8037C>T) c.1297-3C>T (n.1297-3C>T) n.2534-3C>T n.995-2540C>T | gnomAD v4 |
| 9 | g.133436827A>C | CA375391417 | ADAMTS13 | c.1309-2A>C (n.1309-2A>C) c.1216-2A>C (n.1216-2A>C) c.565-2A>C (n.565-2A>C) c.*113-2A>C (n.*113-2A>C) n.974-2539A>C c.*593-2A>C (n.*593-2A>C) n.993-2539A>C c.919-2A>C (n.919-2A>C) c.325-2A>C (n.325-2A>C) c.319-2A>C (n.319-2A>C) c.-27-2A>C (n.-27-2A>C) c.95-2A>C (n.95-2A>C) c.687-8036A>C (n.687-8036A>C) c.1297-2A>C (n.1297-2A>C) n.2534-2A>C n.995-2539A>C | gnomAD v4 |
| 9 | g.133436827A>G | CA375391415 | ADAMTS13 | c.1309-2A>G (n.1309-2A>G) c.1216-2A>G (n.1216-2A>G) c.565-2A>G (n.565-2A>G) c.*113-2A>G (n.*113-2A>G) n.974-2539A>G c.*593-2A>G (n.*593-2A>G) n.993-2539A>G c.919-2A>G (n.919-2A>G) c.325-2A>G (n.325-2A>G) c.319-2A>G (n.319-2A>G) c.-27-2A>G (n.-27-2A>G) c.95-2A>G (n.95-2A>G) c.687-8036A>G (n.687-8036A>G) c.1297-2A>G (n.1297-2A>G) n.2534-2A>G n.995-2539A>G | gnomAD v4 |
| 9 | g.133436827A>T | CA375391416 | ADAMTS13 | c.1309-2A>T (n.1309-2A>T) c.1216-2A>T (n.1216-2A>T) c.565-2A>T (n.565-2A>T) c.*113-2A>T (n.*113-2A>T) n.974-2539A>T c.*593-2A>T (n.*593-2A>T) n.993-2539A>T c.919-2A>T (n.919-2A>T) c.325-2A>T (n.325-2A>T) c.319-2A>T (n.319-2A>T) c.-27-2A>T (n.-27-2A>T) c.95-2A>T (n.95-2A>T) c.687-8036A>T (n.687-8036A>T) c.1297-2A>T (n.1297-2A>T) n.2534-2A>T n.995-2539A>T | gnomAD v4 |
| 9 | g.133436828G>A | CA375391418 | ADAMTS13 | c.1309-1G>A (n.1309-1G>A) c.1216-1G>A (n.1216-1G>A) c.565-1G>A (n.565-1G>A) c.*113-1G>A (n.*113-1G>A) n.974-2538G>A c.*593-1G>A (n.*593-1G>A) n.993-2538G>A c.919-1G>A (n.919-1G>A) c.325-1G>A (n.325-1G>A) c.319-1G>A (n.319-1G>A) c.-27-1G>A (n.-27-1G>A) c.95-1G>A (n.95-1G>A) c.687-8035G>A (n.687-8035G>A) c.1297-1G>A (n.1297-1G>A) n.2534-1G>A n.995-2538G>A | gnomAD v4 |
| 9 | g.133436828G>C | CA375391419 | ADAMTS13 | c.1309-1G>C (n.1309-1G>C) c.1216-1G>C (n.1216-1G>C) c.565-1G>C (n.565-1G>C) c.*113-1G>C (n.*113-1G>C) n.974-2538G>C c.*593-1G>C (n.*593-1G>C) n.993-2538G>C c.919-1G>C (n.919-1G>C) c.325-1G>C (n.325-1G>C) c.319-1G>C (n.319-1G>C) c.-27-1G>C (n.-27-1G>C) c.95-1G>C (n.95-1G>C) c.687-8035G>C (n.687-8035G>C) c.1297-1G>C (n.1297-1G>C) n.2534-1G>C n.995-2538G>C | |
| 9 | g.133436828G>T | CA375391420 | ADAMTS13 | c.1309-1G>T (n.1309-1G>T) c.1216-1G>T (n.1216-1G>T) c.565-1G>T (n.565-1G>T) c.*113-1G>T (n.*113-1G>T) n.974-2538G>T c.*593-1G>T (n.*593-1G>T) n.993-2538G>T c.919-1G>T (n.919-1G>T) c.325-1G>T (n.325-1G>T) c.319-1G>T (n.319-1G>T) c.-27-1G>T (n.-27-1G>T) c.95-1G>T (n.95-1G>T) c.687-8035G>T (n.687-8035G>T) c.1297-1G>T (n.1297-1G>T) n.2534-1G>T n.995-2538G>T | gnomAD v4 |
| 9 | g.133436829G>A | CA375391423 | ADAMTS13 | c.1309G>A (p.Ala437Thr) c.1216G>A (p.Ala406Thr) c.565G>A (p.Ala189Thr) c.*113G>A (n.*113G>A) n.974-2537G>A c.*593G>A (n.*593G>A) n.993-2537G>A c.919G>A (p.Ala307Thr) c.325G>A (p.Ala109Thr) c.319G>A (p.Ala107Thr) c.-27G>A (n.-27G>A) c.95G>A (p.Gly32Asp) c.687-8034G>A (n.687-8034G>A) c.1297G>A (p.Ala433Thr) n.2534G>A n.995-2537G>A | gnomAD v4 |
| 9 | g.133436829G>C | CA375391422 | ADAMTS13 | c.1309G>C (p.Ala437Pro) c.1216G>C (p.Ala406Pro) c.565G>C (p.Ala189Pro) c.*113G>C (n.*113G>C) n.974-2537G>C c.*593G>C (n.*593G>C) n.993-2537G>C c.919G>C (p.Ala307Pro) c.325G>C (p.Ala109Pro) c.319G>C (p.Ala107Pro) c.-27G>C (n.-27G>C) c.95G>C (p.Gly32Ala) c.687-8034G>C (n.687-8034G>C) c.1297G>C (p.Ala433Pro) n.2534G>C n.995-2537G>C | |
| 9 | g.133436829G>T | CA375391421 | ADAMTS13 | c.1309G>T (p.Ala437Ser) c.1216G>T (p.Ala406Ser) c.565G>T (p.Ala189Ser) c.*113G>T (n.*113G>T) n.974-2537G>T c.*593G>T (n.*593G>T) n.993-2537G>T c.919G>T (p.Ala307Ser) c.325G>T (p.Ala109Ser) c.319G>T (p.Ala107Ser) c.-27G>T (n.-27G>T) c.95G>T (p.Gly32Val) c.687-8034G>T (n.687-8034G>T) c.1297G>T (p.Ala433Ser) n.2534G>T n.995-2537G>T | gnomAD v4 |
| 9 | g.133436830_133436835del | CA2523463605 | ADAMTS13 | c.1310_1315del (p.Ala437_Cys438del) c.1217_1222del (p.Ala406_Cys407del) c.566_571del (p.Ala189_Cys190del) c.*114_*119del (n.*114_*119del) n.974-2536_974-2531del c.*594_*599del (n.*594_*599del) n.993-2536_993-2531del c.920_925del (p.Ala307_Cys308del) c.326_331del (p.Ala109_Cys110del) c.320_325del (p.Ala107_Cys108del) c.-26_-21del (n.-26_-21del) c.96_101del (p.Leu33_Arg34del) c.687-8033_687-8028del (n.687-8033_687-8028del) c.1298_1303del (p.Ala433_Cys434del) n.2535_2540del n.995-2536_995-2531del | |
| 9 | g.133436830C>A | CA375391424 | ADAMTS13 | c.1310C>A (p.Ala437Asp) c.1217C>A (p.Ala406Asp) c.566C>A (p.Ala189Asp) c.*114C>A (n.*114C>A) n.974-2536C>A c.*594C>A (n.*594C>A) n.993-2536C>A c.920C>A (p.Ala307Asp) c.326C>A (p.Ala109Asp) c.320C>A (p.Ala107Asp) c.-26C>A (n.-26C>A) c.96C>A (p.Gly32=) c.687-8033C>A (n.687-8033C>A) c.1298C>A (p.Ala433Asp) n.2535C>A n.995-2536C>A | dbSNP gnomAD v4 |
| 9 | g.133436830C= | CA1882673104 | ADAMTS13 | c.1310C= (p.Ala437=) c.1217C= (p.Ala406=) c.566C= (p.Ala189=) c.*114C= (n.*114C=) n.974-2536C= c.*594C= (n.*594C=) n.993-2536C= c.920C= (p.Ala307=) c.326C= (p.Ala109=) c.320C= (p.Ala107=) c.-26C= (n.-26C=) c.96C= (p.Gly32=) c.687-8033C= (n.687-8033C=) c.1298C= (p.Ala433=) n.2535C= n.995-2536C= | |
| 9 | g.133436830C>G | CA375391425 | ADAMTS13 | c.1310C>G (p.Ala437Gly) c.1217C>G (p.Ala406Gly) c.566C>G (p.Ala189Gly) c.*114C>G (n.*114C>G) n.974-2536C>G c.*594C>G (n.*594C>G) n.993-2536C>G c.920C>G (p.Ala307Gly) c.326C>G (p.Ala109Gly) c.320C>G (p.Ala107Gly) c.-26C>G (n.-26C>G) c.96C>G (p.Gly32=) c.687-8033C>G (n.687-8033C>G) c.1298C>G (p.Ala433Gly) n.2535C>G n.995-2536C>G | |
| 9 | g.133436830C>T | CA375391426 | ADAMTS13 | c.1310C>T (p.Ala437Val) c.1217C>T (p.Ala406Val) c.566C>T (p.Ala189Val) c.*114C>T (n.*114C>T) n.974-2536C>T c.*594C>T (n.*594C>T) n.993-2536C>T c.920C>T (p.Ala307Val) c.326C>T (p.Ala109Val) c.320C>T (p.Ala107Val) c.-26C>T (n.-26C>T) c.96C>T (p.Gly32=) c.687-8033C>T (n.687-8033C>T) c.1298C>T (p.Ala433Val) n.2535C>T n.995-2536C>T | gnomAD v4 |
| 9 | g.133436830_133436832del | CA2692370903 | ADAMTS13 | c.1310_1312del (p.Ala437_Cys438delinsGly) c.1217_1219del (p.Ala406_Cys407delinsGly) c.566_568del (p.Ala189_Cys190delinsGly) c.*114_*116del (n.*114_*116del) n.974-2536_974-2534del c.*594_*596del (n.*594_*596del) n.993-2536_993-2534del c.920_922del (p.Ala307_Cys308delinsGly) c.326_328del (p.Ala109_Cys110delinsGly) c.320_322del (p.Ala107_Cys108delinsGly) c.-26_-24del (n.-26_-24del) c.96_98del (p.Leu33del) c.687-8033_687-8031del (n.687-8033_687-8031del) c.1298_1300del (p.Ala433_Cys434delinsGly) n.2535_2537del n.995-2536_995-2534del | gnomAD v4 |
| 9 | g.133436830_133436848del | CA2692370906 | ADAMTS13 | c.1310_1328del (p.Ala437GlyfsTer?) c.1217_1235del (p.Ala406GlyfsTer?) c.566_584del (p.Ala189GlyfsTer?) c.*114_*132del (n.*114_*132del) n.974-2536_974-2518del c.*594_*612del (n.*594_*612del) n.993-2536_993-2518del c.920_938del (p.Ala307GlyfsTer?) c.326_344del (p.Ala109GlyfsTer?) c.320_338del (p.Ala107GlyfsTer?) c.-26_-8del (n.-26_-8del) c.96_114del (p.Leu33GlufsTer?) c.687-8033_687-8015del (n.687-8033_687-8015del) c.1298_1316del (p.Ala433GlyfsTer?) n.2535_2553del n.995-2536_995-2518del | gnomAD v4 |
| 9 | g.133436830_133436906del | CA2692370907 | ADAMTS13 | c.1310_1386del (p.Ala437GlyfsTer?) c.1217_1293del (p.Ala406GlyfsTer?) c.566_642del (p.Ala189GlyfsTer?) c.*114_*190del (n.*114_*190del) n.974-2536_974-2460del c.*594_*670del (n.*594_*670del) n.993-2536_993-2460del c.920_996del (p.Ala307GlyfsTer?) c.326_402del (p.Ala109GlyfsTer?) c.320_396del (p.Ala107GlyfsTer?) c.-26_51del c.96_172del (p.Leu33AlafsTer?) c.687-8033_687-7957del (n.687-8033_687-7957del) c.1298_1374del (p.Ala433GlyfsTer?) n.2535_2611del n.995-2536_995-2460del | gnomAD v4 |
| 9 | g.133436830_133436928del | CA2692370909 | ADAMTS13 | c.1310_1408del (p.Ala437_Trp470delinsGly) c.1217_1315del (p.Ala406_Trp439delinsGly) c.566_664del (p.Ala189_Trp222delinsGly) c.*114_*212del (n.*114_*212del) n.974-2536_974-2438del c.*594_*692del (n.*594_*692del) n.993-2536_993-2438del c.920_1018del (p.Ala307_Trp340delinsGly) c.326_424del (p.Ala109_Trp142delinsGly) c.320_418del (p.Ala107_Trp140delinsGly) c.-26_73del c.96_194del (p.Leu33_Leu65del) c.687-8033_687-7935del (n.687-8033_687-7935del) c.1298_1396del (p.Ala433_Trp466delinsGly) n.2535_2633del n.995-2536_995-2438del | gnomAD v4 |
| 9 | g.133436831C>A | CA2692370917 | ADAMTS13 | c.1311C>A (p.Ala437=) c.1218C>A (p.Ala406=) c.567C>A (p.Ala189=) c.*115C>A (n.*115C>A) n.974-2535C>A c.*595C>A (n.*595C>A) n.993-2535C>A c.921C>A (p.Ala307=) c.327C>A (p.Ala109=) c.321C>A (p.Ala107=) c.-25C>A (n.-25C>A) c.97C>A (p.Leu33Met) c.687-8032C>A (n.687-8032C>A) c.1299C>A (p.Ala433=) n.2536C>A n.995-2535C>A | gnomAD v4 |
| 9 | g.133436831C>T | CA2692370915 | ADAMTS13 | c.1311C>T (p.Ala437=) c.1218C>T (p.Ala406=) c.567C>T (p.Ala189=) c.*115C>T (n.*115C>T) n.974-2535C>T c.*595C>T (n.*595C>T) n.993-2535C>T c.921C>T (p.Ala307=) c.327C>T (p.Ala109=) c.321C>T (p.Ala107=) c.-25C>T (n.-25C>T) c.97C>T (p.Leu33=) c.687-8032C>T (n.687-8032C>T) c.1299C>T (p.Ala433=) n.2536C>T n.995-2535C>T | gnomAD v4 |
| 9 | g.133436832_133436842dup | CA2692370913 | ADAMTS13 | c.1312_1322dup (p.Gln442AlafsTer?) c.1219_1229dup (p.Gln411AlafsTer?) c.568_578dup (p.Gln194AlafsTer?) c.*116_*126dup (n.*116_*126dup) n.974-2534_974-2524dup c.*596_*606dup (n.*596_*606dup) n.993-2534_993-2524dup c.922_932dup (p.Gln312AlafsTer?) c.328_338dup (p.Gln114AlafsTer?) c.322_332dup (p.Gln112AlafsTer?) c.-24_-14dup (n.-24_-14dup) c.98_108dup (p.Pro37CysfsTer?) c.687-8031_687-8021dup (n.687-8031_687-8021dup) c.1300_1310dup (p.Gln438AlafsTer?) n.2537_2547dup n.995-2534_995-2524dup | gnomAD v4 |
| 9 | g.133436832T>A | CA375391427 | ADAMTS13 | c.1312T>A (p.Cys438Ser) c.1219T>A (p.Cys407Ser) c.568T>A (p.Cys190Ser) c.*116T>A (n.*116T>A) n.974-2534T>A c.*596T>A (n.*596T>A) n.993-2534T>A c.922T>A (p.Cys308Ser) c.328T>A (p.Cys110Ser) c.322T>A (p.Cys108Ser) c.-24T>A (n.-24T>A) c.98T>A (p.Leu33Gln) c.687-8031T>A (n.687-8031T>A) c.1300T>A (p.Cys434Ser) n.2537T>A n.995-2534T>A | |
| 9 | g.133436832T>C | CA375391428 | ADAMTS13 | c.1312T>C (p.Cys438Arg) c.1219T>C (p.Cys407Arg) c.568T>C (p.Cys190Arg) c.*116T>C (n.*116T>C) n.974-2534T>C c.*596T>C (n.*596T>C) n.993-2534T>C c.922T>C (p.Cys308Arg) c.328T>C (p.Cys110Arg) c.322T>C (p.Cys108Arg) c.-24T>C (n.-24T>C) c.98T>C (p.Leu33Pro) c.687-8031T>C (n.687-8031T>C) c.1300T>C (p.Cys434Arg) n.2537T>C n.995-2534T>C | dbSNP gnomAD v4 |
| 9 | g.133436832T>G | CA375391429 | ADAMTS13 | c.1312T>G (p.Cys438Gly) c.1219T>G (p.Cys407Gly) c.568T>G (p.Cys190Gly) c.*116T>G (n.*116T>G) n.974-2534T>G c.*596T>G (n.*596T>G) n.993-2534T>G c.922T>G (p.Cys308Gly) c.328T>G (p.Cys110Gly) c.322T>G (p.Cys108Gly) c.-24T>G (n.-24T>G) c.98T>G (p.Leu33Arg) c.687-8031T>G (n.687-8031T>G) c.1300T>G (p.Cys434Gly) n.2537T>G n.995-2534T>G | |
| 9 | g.133436832T= | CA1882673105 | ADAMTS13 | c.1312T= (p.Cys438=) c.1219T= (p.Cys407=) c.568T= (p.Cys190=) c.*116T= (n.*116T=) n.974-2534T= c.*596T= (n.*596T=) n.993-2534T= c.922T= (p.Cys308=) c.328T= (p.Cys110=) c.322T= (p.Cys108=) c.-24T= (n.-24T=) c.98T= (p.Leu33=) c.687-8031T= (n.687-8031T=) c.1300T= (p.Cys434=) n.2537T= n.995-2534T= | |
| 9 | g.133436833G>A | CA375391430 | ADAMTS13 | c.1313G>A (p.Cys438Tyr) c.1220G>A (p.Cys407Tyr) c.569G>A (p.Cys190Tyr) c.*117G>A (n.*117G>A) n.974-2533G>A c.*597G>A (n.*597G>A) n.993-2533G>A c.923G>A (p.Cys308Tyr) c.329G>A (p.Cys110Tyr) c.323G>A (p.Cys108Tyr) c.-23G>A (n.-23G>A) c.99G>A (p.Leu33=) c.687-8030G>A (n.687-8030G>A) c.1301G>A (p.Cys434Tyr) n.2538G>A n.995-2533G>A | gnomAD v4 |
| 9 | g.133436833G>C | CA375391432 | ADAMTS13 | c.1313G>C (p.Cys438Ser) c.1220G>C (p.Cys407Ser) c.569G>C (p.Cys190Ser) c.*117G>C (n.*117G>C) n.974-2533G>C c.*597G>C (n.*597G>C) n.993-2533G>C c.923G>C (p.Cys308Ser) c.329G>C (p.Cys110Ser) c.323G>C (p.Cys108Ser) c.-23G>C (n.-23G>C) c.99G>C (p.Leu33=) c.687-8030G>C (n.687-8030G>C) c.1301G>C (p.Cys434Ser) n.2538G>C n.995-2533G>C | gnomAD v4 |
| 9 | g.133436833G= | CA1882673106 | ADAMTS13 | c.1313G= (p.Cys438=) c.1220G= (p.Cys407=) c.569G= (p.Cys190=) c.*117G= (n.*117G=) n.974-2533G= c.*597G= (n.*597G=) n.993-2533G= c.923G= (p.Cys308=) c.329G= (p.Cys110=) c.323G= (p.Cys108=) c.-23G= (n.-23G=) c.99G= (p.Leu33=) c.687-8030G= (n.687-8030G=) c.1301G= (p.Cys434=) n.2538G= n.995-2533G= | |
| 9 | g.133436833G>T | CA375391431 | ADAMTS13 | c.1313G>T (p.Cys438Phe) c.1220G>T (p.Cys407Phe) c.569G>T (p.Cys190Phe) c.*117G>T (n.*117G>T) n.974-2533G>T c.*597G>T (n.*597G>T) n.993-2533G>T c.923G>T (p.Cys308Phe) c.329G>T (p.Cys110Phe) c.323G>T (p.Cys108Phe) c.-23G>T (n.-23G>T) c.99G>T (p.Leu33=) c.687-8030G>T (n.687-8030G>T) c.1301G>T (p.Cys434Phe) n.2538G>T n.995-2533G>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436834_133436835del | CA2692370926 | ADAMTS13 | c.1314_1315del (p.Cys438Ter) c.1221_1222del (p.Cys407Ter) c.570_571del (p.Cys190Ter) c.*118_*119del (n.*118_*119del) n.974-2532_974-2531del c.*598_*599del (n.*598_*599del) n.993-2532_993-2531del c.924_925del (p.Cys308Ter) c.330_331del (p.Cys110Ter) c.324_325del (p.Cys108Ter) c.-22_-21del (n.-22_-21del) c.100_101del (p.Glu35ArgfsTer?) c.687-8029_687-8028del (n.687-8029_687-8028del) c.1302_1303del (p.Cys434Ter) n.2539_2540del n.995-2532_995-2531del | gnomAD v4 |
| 9 | g.133436834C>A | CA375391433 | ADAMTS13 | c.1314C>A (p.Cys438Ter) c.1221C>A (p.Cys407Ter) c.570C>A (p.Cys190Ter) c.*118C>A (n.*118C>A) n.974-2532C>A c.*598C>A (n.*598C>A) n.993-2532C>A c.924C>A (p.Cys308Ter) c.330C>A (p.Cys110Ter) c.324C>A (p.Cys108Ter) c.-22C>A (n.-22C>A) c.100C>A (p.Arg34=) c.687-8029C>A (n.687-8029C>A) c.1302C>A (p.Cys434Ter) n.2539C>A n.995-2532C>A | gnomAD v4 |
| 9 | g.133436834C= | CA1882673107 | ADAMTS13 | c.1314C= (p.Cys438=) c.1221C= (p.Cys407=) c.570C= (p.Cys190=) c.*118C= (n.*118C=) n.974-2532C= c.*598C= (n.*598C=) n.993-2532C= c.924C= (p.Cys308=) c.330C= (p.Cys110=) c.324C= (p.Cys108=) c.-22C= (n.-22C=) c.100C= (p.Arg34=) c.687-8029C= (n.687-8029C=) c.1302C= (p.Cys434=) n.2539C= n.995-2532C= | |
| 9 | g.133436834C>G | CA375391434 | ADAMTS13 | c.1314C>G (p.Cys438Trp) c.1221C>G (p.Cys407Trp) c.570C>G (p.Cys190Trp) c.*118C>G (n.*118C>G) n.974-2532C>G c.*598C>G (n.*598C>G) n.993-2532C>G c.924C>G (p.Cys308Trp) c.330C>G (p.Cys110Trp) c.324C>G (p.Cys108Trp) c.-22C>G (n.-22C>G) c.100C>G (p.Arg34Gly) c.687-8029C>G (n.687-8029C>G) c.1302C>G (p.Cys434Trp) n.2539C>G n.995-2532C>G | gnomAD v4 |
| 9 | g.133436834C>T | CA200929528 | ADAMTS13 | c.1314C>T (p.Cys438=) c.1221C>T (p.Cys407=) c.570C>T (p.Cys190=) c.*118C>T (n.*118C>T) n.974-2532C>T c.*598C>T (n.*598C>T) n.993-2532C>T c.924C>T (p.Cys308=) c.330C>T (p.Cys110=) c.324C>T (p.Cys108=) c.-22C>T (n.-22C>T) c.100C>T (p.Arg34Ter) c.687-8029C>T (n.687-8029C>T) c.1302C>T (p.Cys434=) n.2539C>T n.995-2532C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436835G>A | CA200929534 | ADAMTS13 | c.1315G>A (p.Glu439Lys) c.1222G>A (p.Glu408Lys) c.571G>A (p.Glu191Lys) c.*119G>A (n.*119G>A) n.974-2531G>A c.*599G>A (n.*599G>A) n.993-2531G>A c.925G>A (p.Glu309Lys) c.331G>A (p.Glu111Lys) c.325G>A (p.Glu109Lys) c.-21G>A (n.-21G>A) c.101G>A (p.Arg34Gln) c.687-8028G>A (n.687-8028G>A) c.1303G>A (p.Glu435Lys) n.2540G>A n.995-2531G>A | dbSNP gnomAD v4 |
| 9 | g.133436835G>C | CA375391435 | ADAMTS13 | c.1315G>C (p.Glu439Gln) c.1222G>C (p.Glu408Gln) c.571G>C (p.Glu191Gln) c.*119G>C (n.*119G>C) n.974-2531G>C c.*599G>C (n.*599G>C) n.993-2531G>C c.925G>C (p.Glu309Gln) c.331G>C (p.Glu111Gln) c.325G>C (p.Glu109Gln) c.-21G>C (n.-21G>C) c.101G>C (p.Arg34Pro) c.687-8028G>C (n.687-8028G>C) c.1303G>C (p.Glu435Gln) n.2540G>C n.995-2531G>C | |
| 9 | g.133436835G= | CA1882673108 | ADAMTS13 | c.1315G= (p.Glu439=) c.1222G= (p.Glu408=) c.571G= (p.Glu191=) c.*119G= (n.*119G=) n.974-2531G= c.*599G= (n.*599G=) n.993-2531G= c.925G= (p.Glu309=) c.331G= (p.Glu111=) c.325G= (p.Glu109=) c.-21G= (n.-21G=) c.101G= (p.Arg34=) c.687-8028G= (n.687-8028G=) c.1303G= (p.Glu435=) n.2540G= n.995-2531G= | |
| 9 | g.133436835G>T | CA375391436 | ADAMTS13 | c.1315G>T (p.Glu439Ter) c.1222G>T (p.Glu408Ter) c.571G>T (p.Glu191Ter) c.*119G>T (n.*119G>T) n.974-2531G>T c.*599G>T (n.*599G>T) n.993-2531G>T c.925G>T (p.Glu309Ter) c.331G>T (p.Glu111Ter) c.325G>T (p.Glu109Ter) c.-21G>T (n.-21G>T) c.101G>T (p.Arg34Leu) c.687-8028G>T (n.687-8028G>T) c.1303G>T (p.Glu435Ter) n.2540G>T n.995-2531G>T | ClinVar dbSNP gnomAD v4 |
| 9 | g.133436836A>C | CA375391437 | ADAMTS13 | c.1316A>C (p.Glu439Ala) c.1223A>C (p.Glu408Ala) c.572A>C (p.Glu191Ala) c.*120A>C (n.*120A>C) n.974-2530A>C c.*600A>C (n.*600A>C) n.993-2530A>C c.926A>C (p.Glu309Ala) c.332A>C (p.Glu111Ala) c.326A>C (p.Glu109Ala) c.-20A>C (n.-20A>C) c.102A>C (p.Arg34=) c.687-8027A>C (n.687-8027A>C) c.1304A>C (p.Glu435Ala) n.2541A>C n.995-2530A>C | |
| 9 | g.133436836A>G | CA375391438 | ADAMTS13 | c.1316A>G (p.Glu439Gly) c.1223A>G (p.Glu408Gly) c.572A>G (p.Glu191Gly) c.*120A>G (n.*120A>G) n.974-2530A>G c.*600A>G (n.*600A>G) n.993-2530A>G c.926A>G (p.Glu309Gly) c.332A>G (p.Glu111Gly) c.326A>G (p.Glu109Gly) c.-20A>G (n.-20A>G) c.102A>G (p.Arg34=) c.687-8027A>G (n.687-8027A>G) c.1304A>G (p.Glu435Gly) n.2541A>G n.995-2530A>G | gnomAD v4 |
| 9 | g.133436836A>T | CA375391439 | ADAMTS13 | c.1316A>T (p.Glu439Val) c.1223A>T (p.Glu408Val) c.572A>T (p.Glu191Val) c.*120A>T (n.*120A>T) n.974-2530A>T c.*600A>T (n.*600A>T) n.993-2530A>T c.926A>T (p.Glu309Val) c.332A>T (p.Glu111Val) c.326A>T (p.Glu109Val) c.-20A>T (n.-20A>T) c.102A>T (p.Arg34=) c.687-8027A>T (n.687-8027A>T) c.1304A>T (p.Glu435Val) n.2541A>T n.995-2530A>T | gnomAD v4 |
| 9 | g.133436837G>A | CA2692370956 | ADAMTS13 | c.1317G>A (p.Glu439=) c.1224G>A (p.Glu408=) c.573G>A (p.Glu191=) c.*121G>A (n.*121G>A) n.974-2529G>A c.*601G>A (n.*601G>A) n.993-2529G>A c.927G>A (p.Glu309=) c.333G>A (p.Glu111=) c.327G>A (p.Glu109=) c.-19G>A (n.-19G>A) c.103G>A (p.Glu35Lys) c.687-8026G>A (n.687-8026G>A) c.1305G>A (p.Glu435=) n.2542G>A n.995-2529G>A | gnomAD v4 |
| 9 | g.133436837G>C | CA375391440 | ADAMTS13 | c.1317G>C (p.Glu439Asp) c.1224G>C (p.Glu408Asp) c.573G>C (p.Glu191Asp) c.*121G>C (n.*121G>C) n.974-2529G>C c.*601G>C (n.*601G>C) n.993-2529G>C c.927G>C (p.Glu309Asp) c.333G>C (p.Glu111Asp) c.327G>C (p.Glu109Asp) c.-19G>C (n.-19G>C) c.103G>C (p.Glu35Gln) c.687-8026G>C (n.687-8026G>C) c.1305G>C (p.Glu435Asp) n.2542G>C n.995-2529G>C | |
| 9 | g.133436837G>T | CA375391441 | ADAMTS13 | c.1317G>T (p.Glu439Asp) c.1224G>T (p.Glu408Asp) c.573G>T (p.Glu191Asp) c.*121G>T (n.*121G>T) n.974-2529G>T c.*601G>T (n.*601G>T) n.993-2529G>T c.927G>T (p.Glu309Asp) c.333G>T (p.Glu111Asp) c.327G>T (p.Glu109Asp) c.-19G>T (n.-19G>T) c.103G>T (p.Glu35Ter) c.687-8026G>T (n.687-8026G>T) c.1305G>T (p.Glu435Asp) n.2542G>T n.995-2529G>T | gnomAD v4 |
| 9 | g.133436838A>C | CA375391442 | ADAMTS13 | c.1318A>C (p.Lys440Gln) c.1225A>C (p.Lys409Gln) c.574A>C (p.Lys192Gln) c.*122A>C (n.*122A>C) n.974-2528A>C c.*602A>C (n.*602A>C) n.993-2528A>C c.928A>C (p.Lys310Gln) c.334A>C (p.Lys112Gln) c.328A>C (p.Lys110Gln) c.-18A>C (n.-18A>C) c.104A>C (p.Glu35Ala) c.687-8025A>C (n.687-8025A>C) c.1306A>C (p.Lys436Gln) n.2543A>C n.995-2528A>C | |
| 9 | g.133436838A>G | CA375391445 | ADAMTS13 | c.1318A>G (p.Lys440Glu) c.1225A>G (p.Lys409Glu) c.574A>G (p.Lys192Glu) c.*122A>G (n.*122A>G) n.974-2528A>G c.*602A>G (n.*602A>G) n.993-2528A>G c.928A>G (p.Lys310Glu) c.334A>G (p.Lys112Glu) c.328A>G (p.Lys110Glu) c.-18A>G (n.-18A>G) c.104A>G (p.Glu35Gly) c.687-8025A>G (n.687-8025A>G) c.1306A>G (p.Lys436Glu) n.2543A>G n.995-2528A>G | |
| 9 | g.133436838A>T | CA375391444 | ADAMTS13 | c.1318A>T (p.Lys440Ter) c.1225A>T (p.Lys409Ter) c.574A>T (p.Lys192Ter) c.*122A>T (n.*122A>T) n.974-2528A>T c.*602A>T (n.*602A>T) n.993-2528A>T c.928A>T (p.Lys310Ter) c.334A>T (p.Lys112Ter) c.328A>T (p.Lys110Ter) c.-18A>T (n.-18A>T) c.104A>T (p.Glu35Val) c.687-8025A>T (n.687-8025A>T) c.1306A>T (p.Lys436Ter) n.2543A>T n.995-2528A>T | |
| 9 | g.133436838_133436845del | CA2692370959 | ADAMTS13 | c.1318_1325del (p.Lys440AlafsTer?) c.1225_1232del (p.Lys409AlafsTer?) c.574_581del (p.Lys192AlafsTer?) c.*122_*129del (n.*122_*129del) n.974-2528_974-2521del c.*602_*609del (n.*602_*609del) n.993-2528_993-2521del c.928_935del (p.Lys310AlafsTer?) c.334_341del (p.Lys112AlafsTer?) c.328_335del (p.Lys110AlafsTer?) c.-18_-11del (n.-18_-11del) c.104_111del (p.Glu35GlyfsTer?) c.687-8025_687-8018del (n.687-8025_687-8018del) c.1306_1313del (p.Lys436AlafsTer?) n.2543_2550del n.995-2528_995-2521del | gnomAD v4 |
| 9 | g.133436838_133436848del | CA2562871574 | ADAMTS13 | c.1318_1328del (p.Lys440GlyfsTer?) c.1225_1235del (p.Lys409GlyfsTer?) c.574_584del (p.Lys192GlyfsTer?) c.*122_*132del (n.*122_*132del) n.974-2528_974-2518del c.*602_*612del (n.*602_*612del) n.993-2528_993-2518del c.928_938del (p.Lys310GlyfsTer?) c.334_344del (p.Lys112GlyfsTer?) c.328_338del (p.Lys110GlyfsTer?) c.-18_-8del (n.-18_-8del) c.104_114del (p.Glu35GlyfsTer?) c.687-8025_687-8015del (n.687-8025_687-8015del) c.1306_1316del (p.Lys436GlyfsTer?) n.2543_2553del n.995-2528_995-2518del | gnomAD v4 |
| 9 | g.133436839A>C | CA375391446 | ADAMTS13 | c.1319A>C (p.Lys440Thr) c.1226A>C (p.Lys409Thr) c.575A>C (p.Lys192Thr) c.*123A>C (n.*123A>C) n.974-2527A>C c.*603A>C (n.*603A>C) n.993-2527A>C c.929A>C (p.Lys310Thr) c.335A>C (p.Lys112Thr) c.329A>C (p.Lys110Thr) c.-17A>C (n.-17A>C) c.105A>C (p.Glu35Asp) c.687-8024A>C (n.687-8024A>C) c.1307A>C (p.Lys436Thr) n.2544A>C n.995-2527A>C | |
| 9 | g.133436839A>G | CA375391448 | ADAMTS13 | c.1319A>G (p.Lys440Arg) c.1226A>G (p.Lys409Arg) c.575A>G (p.Lys192Arg) c.*123A>G (n.*123A>G) n.974-2527A>G c.*603A>G (n.*603A>G) n.993-2527A>G c.929A>G (p.Lys310Arg) c.335A>G (p.Lys112Arg) c.329A>G (p.Lys110Arg) c.-17A>G (n.-17A>G) c.105A>G (p.Glu35=) c.687-8024A>G (n.687-8024A>G) c.1307A>G (p.Lys436Arg) n.2544A>G n.995-2527A>G | |
| 9 | g.133436839A>T | CA375391447 | ADAMTS13 | c.1319A>T (p.Lys440Met) c.1226A>T (p.Lys409Met) c.575A>T (p.Lys192Met) c.*123A>T (n.*123A>T) n.974-2527A>T c.*603A>T (n.*603A>T) n.993-2527A>T c.929A>T (p.Lys310Met) c.335A>T (p.Lys112Met) c.329A>T (p.Lys110Met) c.-17A>T (n.-17A>T) c.105A>T (p.Glu35Asp) c.687-8024A>T (n.687-8024A>T) c.1307A>T (p.Lys436Met) n.2544A>T n.995-2527A>T | |
| 9 | g.133436840G>A | CA2692370964 | ADAMTS13 | c.1320G>A (p.Lys440=) c.1227G>A (p.Lys409=) c.576G>A (p.Lys192=) c.*124G>A (n.*124G>A) n.974-2526G>A c.*604G>A (n.*604G>A) n.993-2526G>A c.930G>A (p.Lys310=) c.336G>A (p.Lys112=) c.330G>A (p.Lys110=) c.-16G>A (n.-16G>A) c.106G>A (p.Asp36Asn) c.687-8023G>A (n.687-8023G>A) c.1308G>A (p.Lys436=) n.2545G>A n.995-2526G>A | gnomAD v4 |
| 9 | g.133436840G>C | CA375391449 | ADAMTS13 | c.1320G>C (p.Lys440Asn) c.1227G>C (p.Lys409Asn) c.576G>C (p.Lys192Asn) c.*124G>C (n.*124G>C) n.974-2526G>C c.*604G>C (n.*604G>C) n.993-2526G>C c.930G>C (p.Lys310Asn) c.336G>C (p.Lys112Asn) c.330G>C (p.Lys110Asn) c.-16G>C (n.-16G>C) c.106G>C (p.Asp36His) c.687-8023G>C (n.687-8023G>C) c.1308G>C (p.Lys436Asn) n.2545G>C n.995-2526G>C | |
| 9 | g.133436840G= | CA1882673109 | ADAMTS13 | c.1320G= (p.Lys440=) c.1227G= (p.Lys409=) c.576G= (p.Lys192=) c.*124G= (n.*124G=) n.974-2526G= c.*604G= (n.*604G=) n.993-2526G= c.930G= (p.Lys310=) c.336G= (p.Lys112=) c.330G= (p.Lys110=) c.-16G= (n.-16G=) c.106G= (p.Asp36=) c.687-8023G= (n.687-8023G=) c.1308G= (p.Lys436=) n.2545G= n.995-2526G= | |
| 9 | g.133436840G>T | CA375391450 | ADAMTS13 | c.1320G>T (p.Lys440Asn) c.1227G>T (p.Lys409Asn) c.576G>T (p.Lys192Asn) c.*124G>T (n.*124G>T) n.974-2526G>T c.*604G>T (n.*604G>T) n.993-2526G>T c.930G>T (p.Lys310Asn) c.336G>T (p.Lys112Asn) c.330G>T (p.Lys110Asn) c.-16G>T (n.-16G>T) c.106G>T (p.Asp36Tyr) c.687-8023G>T (n.687-8023G>T) c.1308G>T (p.Lys436Asn) n.2545G>T n.995-2526G>T | ClinVar dbSNP gnomAD v4 |
| 9 | g.133436841A>C | CA375391451 | ADAMTS13 | c.1321A>C (p.Thr441Pro) c.1228A>C (p.Thr410Pro) c.577A>C (p.Thr193Pro) c.*125A>C (n.*125A>C) n.974-2525A>C c.*605A>C (n.*605A>C) n.993-2525A>C c.931A>C (p.Thr311Pro) c.337A>C (p.Thr113Pro) c.331A>C (p.Thr111Pro) c.-15A>C (n.-15A>C) c.107A>C (p.Asp36Ala) c.687-8022A>C (n.687-8022A>C) c.1309A>C (p.Thr437Pro) n.2546A>C n.995-2525A>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436841A>G | CA375391452 | ADAMTS13 | c.1321A>G (p.Thr441Ala) c.1228A>G (p.Thr410Ala) c.577A>G (p.Thr193Ala) c.*125A>G (n.*125A>G) n.974-2525A>G c.*605A>G (n.*605A>G) n.993-2525A>G c.931A>G (p.Thr311Ala) c.337A>G (p.Thr113Ala) c.331A>G (p.Thr111Ala) c.-15A>G (n.-15A>G) c.107A>G (p.Asp36Gly) c.687-8022A>G (n.687-8022A>G) c.1309A>G (p.Thr437Ala) n.2546A>G n.995-2525A>G | gnomAD v4 |
| 9 | g.133436841A>T | CA375391453 | ADAMTS13 | c.1321A>T (p.Thr441Ser) c.1228A>T (p.Thr410Ser) c.577A>T (p.Thr193Ser) c.*125A>T (n.*125A>T) n.974-2525A>T c.*605A>T (n.*605A>T) n.993-2525A>T c.931A>T (p.Thr311Ser) c.337A>T (p.Thr113Ser) c.331A>T (p.Thr111Ser) c.-15A>T (n.-15A>T) c.107A>T (p.Asp36Val) c.687-8022A>T (n.687-8022A>T) c.1309A>T (p.Thr437Ser) n.2546A>T n.995-2525A>T | gnomAD v4 |
| 9 | g.133436841_133436845del | CA2786169599 | ADAMTS13 | c.1321_1325del (p.Thr441AlafsTer?) c.1228_1232del (p.Thr410AlafsTer?) c.577_581del (p.Thr193AlafsTer?) c.*125_*129del (n.*125_*129del) n.974-2525_974-2521del c.*605_*609del (n.*605_*609del) n.993-2525_993-2521del c.931_935del (p.Thr311AlafsTer?) c.337_341del (p.Thr113AlafsTer?) c.331_335del (p.Thr111AlafsTer?) c.-15_-11del (n.-15_-11del) c.107_111del (p.Asp36GlyfsTer?) c.687-8022_687-8018del (n.687-8022_687-8018del) c.1309_1313del (p.Thr437AlafsTer?) n.2546_2550del n.995-2525_995-2521del | |
| 9 | g.133436842C>A | CA375391454 | ADAMTS13 | c.1322C>A (p.Thr441Asn) c.1229C>A (p.Thr410Asn) c.578C>A (p.Thr193Asn) c.*126C>A (n.*126C>A) n.974-2524C>A c.*606C>A (n.*606C>A) n.993-2524C>A c.932C>A (p.Thr311Asn) c.338C>A (p.Thr113Asn) c.332C>A (p.Thr111Asn) c.-14C>A (n.-14C>A) c.108C>A (p.Asp36Glu) c.687-8021C>A (n.687-8021C>A) c.1310C>A (p.Thr437Asn) n.2547C>A n.995-2524C>A | gnomAD v4 |
| 9 | g.133436842C= | CA1882673110 | ADAMTS13 | c.1322C= (p.Thr441=) c.1229C= (p.Thr410=) c.578C= (p.Thr193=) c.*126C= (n.*126C=) n.974-2524C= c.*606C= (n.*606C=) n.993-2524C= c.932C= (p.Thr311=) c.338C= (p.Thr113=) c.332C= (p.Thr111=) c.-14C= (n.-14C=) c.108C= (p.Asp36=) c.687-8021C= (n.687-8021C=) c.1310C= (p.Thr437=) n.2547C= n.995-2524C= | |
| 9 | g.133436842C>G | CA200929543 | ADAMTS13 | c.1322C>G (p.Thr441Ser) c.1229C>G (p.Thr410Ser) c.578C>G (p.Thr193Ser) c.*126C>G (n.*126C>G) n.974-2524C>G c.*606C>G (n.*606C>G) n.993-2524C>G c.932C>G (p.Thr311Ser) c.338C>G (p.Thr113Ser) c.332C>G (p.Thr111Ser) c.-14C>G (n.-14C>G) c.108C>G (p.Asp36Glu) c.687-8021C>G (n.687-8021C>G) c.1310C>G (p.Thr437Ser) n.2547C>G n.995-2524C>G | dbSNP gnomAD v4 |
| 9 | g.133436842C>T | CA375391455 | ADAMTS13 | c.1322C>T (p.Thr441Ile) c.1229C>T (p.Thr410Ile) c.578C>T (p.Thr193Ile) c.*126C>T (n.*126C>T) n.974-2524C>T c.*606C>T (n.*606C>T) n.993-2524C>T c.932C>T (p.Thr311Ile) c.338C>T (p.Thr113Ile) c.332C>T (p.Thr111Ile) c.-14C>T (n.-14C>T) c.108C>T (p.Asp36=) c.687-8021C>T (n.687-8021C>T) c.1310C>T (p.Thr437Ile) n.2547C>T n.995-2524C>T | gnomAD v4 |
| 9 | g.133436844del | CA2692370971 | ADAMTS13 | c.1324del (p.Gln442SerfsTer?) c.1231del (p.Gln411SerfsTer?) c.580del (p.Gln194SerfsTer?) c.*128del (n.*128del) n.974-2522del c.*608del (n.*608del) n.993-2522del c.934del (p.Gln312SerfsTer?) c.340del (p.Gln114SerfsTer?) c.334del (p.Gln112SerfsTer?) c.-12del (n.-12del) c.110del (p.Pro37GlnfsTer?) c.687-8019del (n.687-8019del) c.1312del (p.Gln438SerfsTer?) n.2549del n.995-2522del | gnomAD v4 |
| 9 | g.133436843C>A | CA2692370978 | ADAMTS13 | c.1323C>A (p.Thr441=) c.1230C>A (p.Thr410=) c.579C>A (p.Thr193=) c.*127C>A (n.*127C>A) n.974-2523C>A c.*607C>A (n.*607C>A) n.993-2523C>A c.933C>A (p.Thr311=) c.339C>A (p.Thr113=) c.333C>A (p.Thr111=) c.-13C>A (n.-13C>A) c.109C>A (p.Pro37Thr) c.687-8020C>A (n.687-8020C>A) c.1311C>A (p.Thr437=) n.2548C>A n.995-2523C>A | gnomAD v4 |
| 9 | g.133436843C= | CA1882673111 | ADAMTS13 | c.1323C= (p.Thr441=) c.1230C= (p.Thr410=) c.579C= (p.Thr193=) c.*127C= (n.*127C=) n.974-2523C= c.*607C= (n.*607C=) n.993-2523C= c.933C= (p.Thr311=) c.339C= (p.Thr113=) c.333C= (p.Thr111=) c.-13C= (n.-13C=) c.109C= (p.Pro37=) c.687-8020C= (n.687-8020C=) c.1311C= (p.Thr437=) n.2548C= n.995-2523C= | |
| 9 | g.133436843C>G | CA1882673112 | ADAMTS13 | c.1323C>G (p.Thr441=) c.1230C>G (p.Thr410=) c.579C>G (p.Thr193=) c.*127C>G (n.*127C>G) n.974-2523C>G c.*607C>G (n.*607C>G) n.993-2523C>G c.933C>G (p.Thr311=) c.339C>G (p.Thr113=) c.333C>G (p.Thr111=) c.-13C>G (n.-13C>G) c.109C>G (p.Pro37Ala) c.687-8020C>G (n.687-8020C>G) c.1311C>G (p.Thr437=) n.2548C>G n.995-2523C>G | dbSNP |
| 9 | g.133436843C>T | CA860755470 | ADAMTS13 | c.1323C>T (p.Thr441=) c.1230C>T (p.Thr410=) c.579C>T (p.Thr193=) c.*127C>T (n.*127C>T) n.974-2523C>T c.*607C>T (n.*607C>T) n.993-2523C>T c.933C>T (p.Thr311=) c.339C>T (p.Thr113=) c.333C>T (p.Thr111=) c.-13C>T (n.-13C>T) c.109C>T (p.Pro37Ser) c.687-8020C>T (n.687-8020C>T) c.1311C>T (p.Thr437=) n.2548C>T n.995-2523C>T | dbSNP gnomAD v4 |
| 9 | g.133436844C>A | CA375391457 | ADAMTS13 | c.1324C>A (p.Gln442Lys) c.1231C>A (p.Gln411Lys) c.580C>A (p.Gln194Lys) c.*128C>A (n.*128C>A) n.974-2522C>A c.*608C>A (n.*608C>A) n.993-2522C>A c.934C>A (p.Gln312Lys) c.340C>A (p.Gln114Lys) c.334C>A (p.Gln112Lys) c.-12C>A (n.-12C>A) c.110C>A (p.Pro37Gln) c.687-8019C>A (n.687-8019C>A) c.1312C>A (p.Gln438Lys) n.2549C>A n.995-2522C>A | gnomAD v4 |
| 9 | g.133436844C>G | CA375391458 | ADAMTS13 | c.1324C>G (p.Gln442Glu) c.1231C>G (p.Gln411Glu) c.580C>G (p.Gln194Glu) c.*128C>G (n.*128C>G) n.974-2522C>G c.*608C>G (n.*608C>G) n.993-2522C>G c.934C>G (p.Gln312Glu) c.340C>G (p.Gln114Glu) c.334C>G (p.Gln112Glu) c.-12C>G (n.-12C>G) c.110C>G (p.Pro37Arg) c.687-8019C>G (n.687-8019C>G) c.1312C>G (p.Gln438Glu) n.2549C>G n.995-2522C>G | |
| 9 | g.133436844C>T | CA375391460 | ADAMTS13 | c.1324C>T (p.Gln442Ter) c.1231C>T (p.Gln411Ter) c.580C>T (p.Gln194Ter) c.*128C>T (n.*128C>T) n.974-2522C>T c.*608C>T (n.*608C>T) n.993-2522C>T c.934C>T (p.Gln312Ter) c.340C>T (p.Gln114Ter) c.334C>T (p.Gln112Ter) c.-12C>T (n.-12C>T) c.110C>T (p.Pro37Leu) c.687-8019C>T (n.687-8019C>T) c.1312C>T (p.Gln438Ter) n.2549C>T n.995-2522C>T | |
| 9 | g.133436845A>C | CA375391466 | ADAMTS13 | c.1325A>C (p.Gln442Pro) c.1232A>C (p.Gln411Pro) c.581A>C (p.Gln194Pro) c.*129A>C (n.*129A>C) n.974-2521A>C c.*609A>C (n.*609A>C) n.993-2521A>C c.935A>C (p.Gln312Pro) c.341A>C (p.Gln114Pro) c.335A>C (p.Gln112Pro) c.-11A>C (n.-11A>C) c.111A>C (p.Pro37=) c.687-8018A>C (n.687-8018A>C) c.1313A>C (p.Gln438Pro) n.2550A>C n.995-2521A>C | |
| 9 | g.133436845A>G | CA375391465 | ADAMTS13 | c.1325A>G (p.Gln442Arg) c.1232A>G (p.Gln411Arg) c.581A>G (p.Gln194Arg) c.*129A>G (n.*129A>G) n.974-2521A>G c.*609A>G (n.*609A>G) n.993-2521A>G c.935A>G (p.Gln312Arg) c.341A>G (p.Gln114Arg) c.335A>G (p.Gln112Arg) c.-11A>G (n.-11A>G) c.111A>G (p.Pro37=) c.687-8018A>G (n.687-8018A>G) c.1313A>G (p.Gln438Arg) n.2550A>G n.995-2521A>G | gnomAD v4 |
| 9 | g.133436845A>T | CA375391463 | ADAMTS13 | c.1325A>T (p.Gln442Leu) c.1232A>T (p.Gln411Leu) c.581A>T (p.Gln194Leu) c.*129A>T (n.*129A>T) n.974-2521A>T c.*609A>T (n.*609A>T) n.993-2521A>T c.935A>T (p.Gln312Leu) c.341A>T (p.Gln114Leu) c.335A>T (p.Gln112Leu) c.-11A>T (n.-11A>T) c.111A>T (p.Pro37=) c.687-8018A>T (n.687-8018A>T) c.1313A>T (p.Gln438Leu) n.2550A>T n.995-2521A>T | |
| 9 | g.133436846G>A | CA2692370988 | ADAMTS13 | c.1326G>A (p.Gln442=) c.1233G>A (p.Gln411=) c.582G>A (p.Gln194=) c.*130G>A (n.*130G>A) n.974-2520G>A c.*610G>A (n.*610G>A) n.993-2520G>A c.936G>A (p.Gln312=) c.342G>A (p.Gln114=) c.336G>A (p.Gln112=) c.-10G>A (n.-10G>A) c.112G>A (p.Ala38Thr) c.687-8017G>A (n.687-8017G>A) c.1314G>A (p.Gln438=) n.2551G>A n.995-2520G>A | gnomAD v4 |
| 9 | g.133436846G>C | CA375391469 | ADAMTS13 | c.1326G>C (p.Gln442His) c.1233G>C (p.Gln411His) c.582G>C (p.Gln194His) c.*130G>C (n.*130G>C) n.974-2520G>C c.*610G>C (n.*610G>C) n.993-2520G>C c.936G>C (p.Gln312His) c.342G>C (p.Gln114His) c.336G>C (p.Gln112His) c.-10G>C (n.-10G>C) c.112G>C (p.Ala38Pro) c.687-8017G>C (n.687-8017G>C) c.1314G>C (p.Gln438His) n.2551G>C n.995-2520G>C | dbSNP |
| 9 | g.133436846G= | CA1882673113 | ADAMTS13 | c.1326G= (p.Gln442=) c.1233G= (p.Gln411=) c.582G= (p.Gln194=) c.*130G= (n.*130G=) n.974-2520G= c.*610G= (n.*610G=) n.993-2520G= c.936G= (p.Gln312=) c.342G= (p.Gln114=) c.336G= (p.Gln112=) c.-10G= (n.-10G=) c.112G= (p.Ala38=) c.687-8017G= (n.687-8017G=) c.1314G= (p.Gln438=) n.2551G= n.995-2520G= | |
| 9 | g.133436846G>T | CA375391471 | ADAMTS13 | c.1326G>T (p.Gln442His) c.1233G>T (p.Gln411His) c.582G>T (p.Gln194His) c.*130G>T (n.*130G>T) n.974-2520G>T c.*610G>T (n.*610G>T) n.993-2520G>T c.936G>T (p.Gln312His) c.342G>T (p.Gln114His) c.336G>T (p.Gln112His) c.-10G>T (n.-10G>T) c.112G>T (p.Ala38Ser) c.687-8017G>T (n.687-8017G>T) c.1314G>T (p.Gln438His) n.2551G>T n.995-2520G>T | gnomAD v4 |
| 9 | g.133436847C>A | CA200929547 | ADAMTS13 | c.1327C>A (p.Leu443Met) c.1234C>A (p.Leu412Met) c.583C>A (p.Leu195Met) c.*131C>A (n.*131C>A) n.974-2519C>A c.*611C>A (n.*611C>A) n.993-2519C>A c.937C>A (p.Leu313Met) c.343C>A (p.Leu115Met) c.337C>A (p.Leu113Met) c.-9C>A (n.-9C>A) c.113C>A (p.Ala38Asp) c.687-8016C>A (n.687-8016C>A) c.1315C>A (p.Leu439Met) n.2552C>A n.995-2519C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436847C= | CA1882673114 | ADAMTS13 | c.1327C= (p.Leu443=) c.1234C= (p.Leu412=) c.583C= (p.Leu195=) c.*131C= (n.*131C=) n.974-2519C= c.*611C= (n.*611C=) n.993-2519C= c.937C= (p.Leu313=) c.343C= (p.Leu115=) c.337C= (p.Leu113=) c.-9C= (n.-9C=) c.113C= (p.Ala38=) c.687-8016C= (n.687-8016C=) c.1315C= (p.Leu439=) n.2552C= n.995-2519C= | |
| 9 | g.133436847C>G | CA375391474 | ADAMTS13 | c.1327C>G (p.Leu443Val) c.1234C>G (p.Leu412Val) c.583C>G (p.Leu195Val) c.*131C>G (n.*131C>G) n.974-2519C>G c.*611C>G (n.*611C>G) n.993-2519C>G c.937C>G (p.Leu313Val) c.343C>G (p.Leu115Val) c.337C>G (p.Leu113Val) c.-9C>G (n.-9C>G) c.113C>G (p.Ala38Gly) c.687-8016C>G (n.687-8016C>G) c.1315C>G (p.Leu439Val) n.2552C>G n.995-2519C>G | gnomAD v4 |
| 9 | g.133436847C>T | CA2692370998 | ADAMTS13 | c.1327C>T (p.Leu443=) c.1234C>T (p.Leu412=) c.583C>T (p.Leu195=) c.*131C>T (n.*131C>T) n.974-2519C>T c.*611C>T (n.*611C>T) n.993-2519C>T c.937C>T (p.Leu313=) c.343C>T (p.Leu115=) c.337C>T (p.Leu113=) c.-9C>T (n.-9C>T) c.113C>T (p.Ala38Val) c.687-8016C>T (n.687-8016C>T) c.1315C>T (p.Leu439=) n.2552C>T n.995-2519C>T | gnomAD v4 |
| 9 | g.133436848T>A | CA375391476 | ADAMTS13 | c.1328T>A (p.Leu443Gln) c.1235T>A (p.Leu412Gln) c.584T>A (p.Leu195Gln) c.*132T>A (n.*132T>A) n.974-2518T>A c.*612T>A (n.*612T>A) n.993-2518T>A c.938T>A (p.Leu313Gln) c.344T>A (p.Leu115Gln) c.338T>A (p.Leu113Gln) c.-8T>A (n.-8T>A) c.114T>A (p.Ala38=) c.687-8015T>A (n.687-8015T>A) c.1316T>A (p.Leu439Gln) n.2553T>A n.995-2518T>A | |
| 9 | g.133436848T>C | CA375391478 | ADAMTS13 | c.1328T>C (p.Leu443Pro) c.1235T>C (p.Leu412Pro) c.584T>C (p.Leu195Pro) c.*132T>C (n.*132T>C) n.974-2518T>C c.*612T>C (n.*612T>C) n.993-2518T>C c.938T>C (p.Leu313Pro) c.344T>C (p.Leu115Pro) c.338T>C (p.Leu113Pro) c.-8T>C (n.-8T>C) c.114T>C (p.Ala38=) c.687-8015T>C (n.687-8015T>C) c.1316T>C (p.Leu439Pro) n.2553T>C n.995-2518T>C | gnomAD v4 |
| 9 | g.133436848T>G | CA375391480 | ADAMTS13 | c.1328T>G (p.Leu443Arg) c.1235T>G (p.Leu412Arg) c.584T>G (p.Leu195Arg) c.*132T>G (n.*132T>G) n.974-2518T>G c.*612T>G (n.*612T>G) n.993-2518T>G c.938T>G (p.Leu313Arg) c.344T>G (p.Leu115Arg) c.338T>G (p.Leu113Arg) c.-8T>G (n.-8T>G) c.114T>G (p.Ala38=) c.687-8015T>G (n.687-8015T>G) c.1316T>G (p.Leu439Arg) n.2553T>G n.995-2518T>G | gnomAD v4 |
| 9 | g.133436849G>A | CA2692371003 | ADAMTS13 | c.1329G>A (p.Leu443=) c.1236G>A (p.Leu412=) c.585G>A (p.Leu195=) c.*133G>A (n.*133G>A) n.974-2517G>A c.*613G>A (n.*613G>A) n.993-2517G>A c.939G>A (p.Leu313=) c.345G>A (p.Leu115=) c.339G>A (p.Leu113=) c.-7G>A (n.-7G>A) c.115G>A (p.Gly39Arg) c.687-8014G>A (n.687-8014G>A) c.1317G>A (p.Leu439=) n.2554G>A n.995-2517G>A | gnomAD v4 |
| 9 | g.133436849G>T | CA2692371005 | ADAMTS13 | c.1329G>T (p.Leu443=) c.1236G>T (p.Leu412=) c.585G>T (p.Leu195=) c.*133G>T (n.*133G>T) n.974-2517G>T c.*613G>T (n.*613G>T) n.993-2517G>T c.939G>T (p.Leu313=) c.345G>T (p.Leu115=) c.339G>T (p.Leu113=) c.-7G>T (n.-7G>T) c.115G>T (p.Gly39Ter) c.687-8014G>T (n.687-8014G>T) c.1317G>T (p.Leu439=) n.2554G>T n.995-2517G>T | gnomAD v4 |
| 9 | g.133436850G>A | CA375391482 | ADAMTS13 | c.1330G>A (p.Glu444Lys) c.1237G>A (p.Glu413Lys) c.586G>A (p.Glu196Lys) c.*134G>A (n.*134G>A) n.974-2516G>A c.*614G>A (n.*614G>A) n.993-2516G>A c.940G>A (p.Glu314Lys) c.346G>A (p.Glu116Lys) c.340G>A (p.Glu114Lys) c.-6G>A (n.-6G>A) c.116G>A (p.Gly39Glu) c.687-8013G>A (n.687-8013G>A) c.1318G>A (p.Glu440Lys) n.2555G>A n.995-2516G>A | dbSNP gnomAD v4 |
| 9 | g.133436850G>C | CA375391484 | ADAMTS13 | c.1330G>C (p.Glu444Gln) c.1237G>C (p.Glu413Gln) c.586G>C (p.Glu196Gln) c.*134G>C (n.*134G>C) n.974-2516G>C c.*614G>C (n.*614G>C) n.993-2516G>C c.940G>C (p.Glu314Gln) c.346G>C (p.Glu116Gln) c.340G>C (p.Glu114Gln) c.-6G>C (n.-6G>C) c.116G>C (p.Gly39Ala) c.687-8013G>C (n.687-8013G>C) c.1318G>C (p.Glu440Gln) n.2555G>C n.995-2516G>C | gnomAD v4 |
| 9 | g.133436850G= | CA1882673115 | ADAMTS13 | c.1330G= (p.Glu444=) c.1237G= (p.Glu413=) c.586G= (p.Glu196=) c.*134G= (n.*134G=) n.974-2516G= c.*614G= (n.*614G=) n.993-2516G= c.940G= (p.Glu314=) c.346G= (p.Glu116=) c.340G= (p.Glu114=) c.-6G= (n.-6G=) c.116G= (p.Gly39=) c.687-8013G= (n.687-8013G=) c.1318G= (p.Glu440=) n.2555G= n.995-2516G= | |
| 9 | g.133436850G>T | CA200929553 | ADAMTS13 | c.1330G>T (p.Glu444Ter) c.1237G>T (p.Glu413Ter) c.586G>T (p.Glu196Ter) c.*134G>T (n.*134G>T) n.974-2516G>T c.*614G>T (n.*614G>T) n.993-2516G>T c.940G>T (p.Glu314Ter) c.346G>T (p.Glu116Ter) c.340G>T (p.Glu114Ter) c.-6G>T (n.-6G>T) c.116G>T (p.Gly39Val) c.687-8013G>T (n.687-8013G>T) c.1318G>T (p.Glu440Ter) n.2555G>T n.995-2516G>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436851_133436852del | CA2692371009 | ADAMTS13 | c.1331_1332del (p.Glu444ValfsTer?) c.1238_1239del (p.Glu413ValfsTer?) c.587_588del (p.Glu196ValfsTer?) c.*135_*136del (n.*135_*136del) n.974-2515_974-2514del c.*615_*616del (n.*615_*616del) n.993-2515_993-2514del c.941_942del (p.Glu314ValfsTer?) c.347_348del (p.Glu116ValfsTer?) c.341_342del (p.Glu114ValfsTer?) c.-5_-4del (n.-5_-4del) c.117_118del (p.Val40SerfsTer?) c.687-8012_687-8011del (n.687-8012_687-8011del) c.1319_1320del (p.Glu440ValfsTer?) n.2556_2557del n.995-2515_995-2514del | gnomAD v4 |
| 9 | g.133436851A= | CA1882673116 | ADAMTS13 | c.1331A= (p.Glu444=) c.1238A= (p.Glu413=) c.587A= (p.Glu196=) c.*135A= (n.*135A=) n.974-2515A= c.*615A= (n.*615A=) n.993-2515A= c.941A= (p.Glu314=) c.347A= (p.Glu116=) c.341A= (p.Glu114=) c.-5A= (n.-5A=) c.117A= (p.Gly39=) c.687-8012A= (n.687-8012A=) c.1319A= (p.Glu440=) n.2556A= n.995-2515A= | |
| 9 | g.133436851A>C | CA375391485 | ADAMTS13 | c.1331A>C (p.Glu444Ala) c.1238A>C (p.Glu413Ala) c.587A>C (p.Glu196Ala) c.*135A>C (n.*135A>C) n.974-2515A>C c.*615A>C (n.*615A>C) n.993-2515A>C c.941A>C (p.Glu314Ala) c.347A>C (p.Glu116Ala) c.341A>C (p.Glu114Ala) c.-5A>C (n.-5A>C) c.117A>C (p.Gly39=) c.687-8012A>C (n.687-8012A>C) c.1319A>C (p.Glu440Ala) n.2556A>C n.995-2515A>C | |
| 9 | g.133436851A>G | CA375391488 | ADAMTS13 | c.1331A>G (p.Glu444Gly) c.1238A>G (p.Glu413Gly) c.587A>G (p.Glu196Gly) c.*135A>G (n.*135A>G) n.974-2515A>G c.*615A>G (n.*615A>G) n.993-2515A>G c.941A>G (p.Glu314Gly) c.347A>G (p.Glu116Gly) c.341A>G (p.Glu114Gly) c.-5A>G (n.-5A>G) c.117A>G (p.Gly39=) c.687-8012A>G (n.687-8012A>G) c.1319A>G (p.Glu440Gly) n.2556A>G n.995-2515A>G | gnomAD v4 |
| 9 | g.133436851A>T | CA375391489 | ADAMTS13 | c.1331A>T (p.Glu444Val) c.1238A>T (p.Glu413Val) c.587A>T (p.Glu196Val) c.*135A>T (n.*135A>T) n.974-2515A>T c.*615A>T (n.*615A>T) n.993-2515A>T c.941A>T (p.Glu314Val) c.347A>T (p.Glu116Val) c.341A>T (p.Glu114Val) c.-5A>T (n.-5A>T) c.117A>T (p.Gly39=) c.687-8012A>T (n.687-8012A>T) c.1319A>T (p.Glu440Val) n.2556A>T n.995-2515A>T | dbSNP gnomAD v4 |
| 9 | g.133436851_133436874del | CA2692371013 | ADAMTS13 | c.1331_1354del (p.Glu444_Arg452delinsGly) c.1238_1261del (p.Glu413_Arg421delinsGly) c.587_610del (p.Glu196_Arg204delinsGly) c.*135_*158del (n.*135_*158del) n.974-2515_974-2492del c.*615_*638del (n.*615_*638del) n.993-2515_993-2492del c.941_964del (p.Glu314_Arg322delinsGly) c.347_370del (p.Glu116_Arg124delinsGly) c.341_364del (p.Glu114_Arg122delinsGly) c.-5_19del c.117_140del (p.Val40_Gln47del) c.687-8012_687-7989del (n.687-8012_687-7989del) c.1319_1342del (p.Glu440_Arg448delinsGly) n.2556_2579del n.995-2515_995-2492del | gnomAD v4 |
| 9 | g.133436852G>C | CA375391494 | ADAMTS13 | c.1332G>C (p.Glu444Asp) c.1239G>C (p.Glu413Asp) c.588G>C (p.Glu196Asp) c.*136G>C (n.*136G>C) n.974-2514G>C c.*616G>C (n.*616G>C) n.993-2514G>C c.942G>C (p.Glu314Asp) c.348G>C (p.Glu116Asp) c.342G>C (p.Glu114Asp) c.-4G>C (n.-4G>C) c.118G>C (p.Val40Leu) c.687-8011G>C (n.687-8011G>C) c.1320G>C (p.Glu440Asp) n.2557G>C n.995-2514G>C | |
| 9 | g.133436852G>T | CA375391492 | ADAMTS13 | c.1332G>T (p.Glu444Asp) c.1239G>T (p.Glu413Asp) c.588G>T (p.Glu196Asp) c.*136G>T (n.*136G>T) n.974-2514G>T c.*616G>T (n.*616G>T) n.993-2514G>T c.942G>T (p.Glu314Asp) c.348G>T (p.Glu116Asp) c.342G>T (p.Glu114Asp) c.-4G>T (n.-4G>T) c.118G>T (p.Val40Phe) c.687-8011G>T (n.687-8011G>T) c.1320G>T (p.Glu440Asp) n.2557G>T n.995-2514G>T | gnomAD v4 |
| 9 | g.133436853T>A | CA375391496 | ADAMTS13 | c.1333T>A (p.Phe445Ile) c.1240T>A (p.Phe414Ile) c.589T>A (p.Phe197Ile) c.*137T>A (n.*137T>A) n.974-2513T>A c.*617T>A (n.*617T>A) n.993-2513T>A c.943T>A (p.Phe315Ile) c.349T>A (p.Phe117Ile) c.343T>A (p.Phe115Ile) c.-3T>A (n.-3T>A) c.119T>A (p.Val40Asp) c.687-8010T>A (n.687-8010T>A) c.1321T>A (p.Phe441Ile) n.2558T>A n.995-2513T>A | |
| 9 | g.133436853T>C | CA375391498 | ADAMTS13 | c.1333T>C (p.Phe445Leu) c.1240T>C (p.Phe414Leu) c.589T>C (p.Phe197Leu) c.*137T>C (n.*137T>C) n.974-2513T>C c.*617T>C (n.*617T>C) n.993-2513T>C c.943T>C (p.Phe315Leu) c.349T>C (p.Phe117Leu) c.343T>C (p.Phe115Leu) c.-3T>C (n.-3T>C) c.119T>C (p.Val40Ala) c.687-8010T>C (n.687-8010T>C) c.1321T>C (p.Phe441Leu) n.2558T>C n.995-2513T>C | dbSNP gnomAD v4 |
| 9 | g.133436853T>G | CA200929558 | ADAMTS13 | c.1333T>G (p.Phe445Val) c.1240T>G (p.Phe414Val) c.589T>G (p.Phe197Val) c.*137T>G (n.*137T>G) n.974-2513T>G c.*617T>G (n.*617T>G) n.993-2513T>G c.943T>G (p.Phe315Val) c.349T>G (p.Phe117Val) c.343T>G (p.Phe115Val) c.-3T>G (n.-3T>G) c.119T>G (p.Val40Gly) c.687-8010T>G (n.687-8010T>G) c.1321T>G (p.Phe441Val) n.2558T>G n.995-2513T>G | dbSNP gnomAD v4 |
| 9 | g.133436853T= | CA1882673117 | ADAMTS13 | c.1333T= (p.Phe445=) c.1240T= (p.Phe414=) c.589T= (p.Phe197=) c.*137T= (n.*137T=) n.974-2513T= c.*617T= (n.*617T=) n.993-2513T= c.943T= (p.Phe315=) c.349T= (p.Phe117=) c.343T= (p.Phe115=) c.-3T= (n.-3T=) c.119T= (p.Val40=) c.687-8010T= (n.687-8010T=) c.1321T= (p.Phe441=) n.2558T= n.995-2513T= | |
| 9 | g.133436853_133436866del | CA2692371023 | ADAMTS13 | c.1333_1346del (p.Phe445ValfsTer?) c.1240_1253del (p.Phe414ValfsTer?) c.589_602del (p.Phe197ValfsTer?) c.*137_*150del (n.*137_*150del) n.974-2513_974-2500del c.*617_*630del (n.*617_*630del) n.993-2513_993-2500del c.943_956del (p.Phe315ValfsTer?) c.349_362del (p.Phe117ValfsTer?) c.343_356del (p.Phe115ValfsTer?) c.-3_11del c.119_132del (p.Val40GlyfsTer?) c.687-8010_687-7997del (n.687-8010_687-7997del) c.1321_1334del (p.Phe441ValfsTer?) n.2558_2571del n.995-2513_995-2500del | gnomAD v4 |
| 9 | g.133436853_133436874del | CA2573050850 | ADAMTS13 | c.1333_1354del (p.Phe445GlyfsTer?) c.1240_1261del (p.Phe414GlyfsTer?) c.589_610del (p.Phe197GlyfsTer?) c.*137_*158del (n.*137_*158del) n.974-2513_974-2492del c.*617_*638del (n.*617_*638del) n.993-2513_993-2492del c.943_964del (p.Phe315GlyfsTer?) c.349_370del (p.Phe117GlyfsTer?) c.343_364del (p.Phe115GlyfsTer?) c.-3_19del c.119_140del (p.Val40GlyfsTer?) c.687-8010_687-7989del (n.687-8010_687-7989del) c.1321_1342del (p.Phe441GlyfsTer?) n.2558_2579del n.995-2513_995-2492del | gnomAD v4 |
| 9 | g.133436854T>A | CA375391501 | ADAMTS13 | c.1334T>A (p.Phe445Tyr) c.1241T>A (p.Phe414Tyr) c.590T>A (p.Phe197Tyr) c.*138T>A (n.*138T>A) n.974-2512T>A c.*618T>A (n.*618T>A) n.993-2512T>A c.944T>A (p.Phe315Tyr) c.350T>A (p.Phe117Tyr) c.344T>A (p.Phe115Tyr) c.-2T>A (n.-2T>A) c.120T>A (p.Val40=) c.687-8009T>A (n.687-8009T>A) c.1322T>A (p.Phe441Tyr) n.2559T>A n.995-2512T>A | |
| 9 | g.133436854T>C | CA375391503 | ADAMTS13 | c.1334T>C (p.Phe445Ser) c.1241T>C (p.Phe414Ser) c.590T>C (p.Phe197Ser) c.*138T>C (n.*138T>C) n.974-2512T>C c.*618T>C (n.*618T>C) n.993-2512T>C c.944T>C (p.Phe315Ser) c.350T>C (p.Phe117Ser) c.344T>C (p.Phe115Ser) c.-2T>C (n.-2T>C) c.120T>C (p.Val40=) c.687-8009T>C (n.687-8009T>C) c.1322T>C (p.Phe441Ser) n.2559T>C n.995-2512T>C | |
| 9 | g.133436854T>G | CA375391505 | ADAMTS13 | c.1334T>G (p.Phe445Cys) c.1241T>G (p.Phe414Cys) c.590T>G (p.Phe197Cys) c.*138T>G (n.*138T>G) n.974-2512T>G c.*618T>G (n.*618T>G) n.993-2512T>G c.944T>G (p.Phe315Cys) c.350T>G (p.Phe117Cys) c.344T>G (p.Phe115Cys) c.-2T>G (n.-2T>G) c.120T>G (p.Val40=) c.687-8009T>G (n.687-8009T>G) c.1322T>G (p.Phe441Cys) n.2559T>G n.995-2512T>G | |
| 9 | g.133436855del | CA2580079949 | ADAMTS13 | c.1335del (p.Phe445LeufsTer?) c.1242del (p.Phe414LeufsTer?) c.591del (p.Phe197LeufsTer?) c.*139del (n.*139del) n.974-2511del c.*619del (n.*619del) n.993-2511del c.945del (p.Phe315LeufsTer?) c.351del (p.Phe117LeufsTer?) c.345del (p.Phe115LeufsTer?) c.-1del (n.-1del) c.121del (p.His41MetfsTer?) c.687-8008del (n.687-8008del) c.1323del (p.Phe441LeufsTer?) n.2560del n.995-2511del | ClinVar gnomAD v4 |
| 9 | g.133436855C>A | CA375391510 | ADAMTS13 | c.1335C>A (p.Phe445Leu) c.1242C>A (p.Phe414Leu) c.591C>A (p.Phe197Leu) c.*139C>A (n.*139C>A) n.974-2511C>A c.*619C>A (n.*619C>A) n.993-2511C>A c.945C>A (p.Phe315Leu) c.351C>A (p.Phe117Leu) c.345C>A (p.Phe115Leu) c.-1C>A (n.-1C>A) c.121C>A (p.His41Asn) c.687-8008C>A (n.687-8008C>A) c.1323C>A (p.Phe441Leu) n.2560C>A n.995-2511C>A | gnomAD v4 |
| 9 | g.133436855C= | CA1882673118 | ADAMTS13 | c.1335C= (p.Phe445=) c.1242C= (p.Phe414=) c.591C= (p.Phe197=) c.*139C= (n.*139C=) n.974-2511C= c.*619C= (n.*619C=) n.993-2511C= c.945C= (p.Phe315=) c.351C= (p.Phe117=) c.345C= (p.Phe115=) c.-1C= (n.-1C=) c.121C= (p.His41=) c.687-8008C= (n.687-8008C=) c.1323C= (p.Phe441=) n.2560C= n.995-2511C= | |
| 9 | g.133436855C>G | CA375391509 | ADAMTS13 | c.1335C>G (p.Phe445Leu) c.1242C>G (p.Phe414Leu) c.591C>G (p.Phe197Leu) c.*139C>G (n.*139C>G) n.974-2511C>G c.*619C>G (n.*619C>G) n.993-2511C>G c.945C>G (p.Phe315Leu) c.351C>G (p.Phe117Leu) c.345C>G (p.Phe115Leu) c.-1C>G (n.-1C>G) c.121C>G (p.His41Asp) c.687-8008C>G (n.687-8008C>G) c.1323C>G (p.Phe441Leu) n.2560C>G n.995-2511C>G | gnomAD v4 |
| 9 | g.133436855C>T | CA200929574 | ADAMTS13 | c.1335C>T (p.Phe445=) c.1242C>T (p.Phe414=) c.591C>T (p.Phe197=) c.*139C>T (n.*139C>T) n.974-2511C>T c.*619C>T (n.*619C>T) n.993-2511C>T c.945C>T (p.Phe315=) c.351C>T (p.Phe117=) c.345C>T (p.Phe115=) c.-1C>T (n.-1C>T) c.121C>T (p.His41Tyr) c.687-8008C>T (n.687-8008C>T) c.1323C>T (p.Phe441=) n.2560C>T n.995-2511C>T | dbSNP gnomAD v4 |
| 9 | g.133436855_133436856del | CA2499219751 | ADAMTS13 | c.1335_1336del (p.Met446ValfsTer?) c.1242_1243del (p.Met415ValfsTer?) c.591_592del (p.Met198ValfsTer?) c.*139_*140del (n.*139_*140del) n.974-2511_974-2510del c.*619_*620del (n.*619_*620del) n.993-2511_993-2510del c.945_946del (p.Met316ValfsTer?) c.351_352del (p.Met118ValfsTer?) c.345_346del (p.Met116ValfsTer?) c.-1_1del c.121_122del (p.His41CysfsTer?) c.687-8008_687-8007del (n.687-8008_687-8007del) c.1323_1324del (p.Met442ValfsTer?) n.2560_2561del n.995-2511_995-2510del | ClinVar dbSNP |
| 9 | g.133436856A= | CA1882673119 | ADAMTS13 | c.1336A= (p.Met446=) c.1243A= (p.Met415=) c.592A= (p.Met198=) c.*140A= (n.*140A=) n.974-2510A= c.*620A= (n.*620A=) n.993-2510A= c.946A= (p.Met316=) c.352A= (p.Met118=) c.346A= (p.Met116=) c.1A= (p.Met1=) c.122A= (p.His41=) c.687-8007A= (n.687-8007A=) c.1324A= (p.Met442=) n.2561A= n.995-2510A= | |
| 9 | g.133436856A>C | CA375391512 | ADAMTS13 | c.1336A>C (p.Met446Leu) c.1243A>C (p.Met415Leu) c.592A>C (p.Met198Leu) c.*140A>C (n.*140A>C) n.974-2510A>C c.*620A>C (n.*620A>C) n.993-2510A>C c.946A>C (p.Met316Leu) c.352A>C (p.Met118Leu) c.346A>C (p.Met116Leu) c.1A>C (p.Met1Leu) c.122A>C (p.His41Pro) c.687-8007A>C (n.687-8007A>C) c.1324A>C (p.Met442Leu) n.2561A>C n.995-2510A>C | gnomAD v4 |
| 9 | g.133436856A>G | CA200929586 | ADAMTS13 | c.1336A>G (p.Met446Val) c.1243A>G (p.Met415Val) c.592A>G (p.Met198Val) c.*140A>G (n.*140A>G) n.974-2510A>G c.*620A>G (n.*620A>G) n.993-2510A>G c.946A>G (p.Met316Val) c.352A>G (p.Met118Val) c.346A>G (p.Met116Val) c.1A>G (p.Met1Val) c.122A>G (p.His41Arg) c.687-8007A>G (n.687-8007A>G) c.1324A>G (p.Met442Val) n.2561A>G n.995-2510A>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436856A>T | CA375391515 | ADAMTS13 | c.1336A>T (p.Met446Leu) c.1243A>T (p.Met415Leu) c.592A>T (p.Met198Leu) c.*140A>T (n.*140A>T) n.974-2510A>T c.*620A>T (n.*620A>T) n.993-2510A>T c.946A>T (p.Met316Leu) c.352A>T (p.Met118Leu) c.346A>T (p.Met116Leu) c.1A>T (p.Met1Leu) c.122A>T (p.His41Leu) c.687-8007A>T (n.687-8007A>T) c.1324A>T (p.Met442Leu) n.2561A>T n.995-2510A>T | |
| 9 | g.133436857T>A | CA375391517 | ADAMTS13 | c.1337T>A (p.Met446Lys) c.1244T>A (p.Met415Lys) c.593T>A (p.Met198Lys) c.*141T>A (n.*141T>A) n.974-2509T>A c.*621T>A (n.*621T>A) n.993-2509T>A c.947T>A (p.Met316Lys) c.353T>A (p.Met118Lys) c.347T>A (p.Met116Lys) c.2T>A (p.Met1Lys) c.123T>A (p.His41Gln) c.687-8006T>A (n.687-8006T>A) c.1325T>A (p.Met442Lys) n.2562T>A n.995-2509T>A | gnomAD v4 |
| 9 | g.133436857T>C | CA375391519 | ADAMTS13 | c.1337T>C (p.Met446Thr) c.1244T>C (p.Met415Thr) c.593T>C (p.Met198Thr) c.*141T>C (n.*141T>C) n.974-2509T>C c.*621T>C (n.*621T>C) n.993-2509T>C c.947T>C (p.Met316Thr) c.353T>C (p.Met118Thr) c.347T>C (p.Met116Thr) c.2T>C (p.Met1Thr) c.123T>C (p.His41=) c.687-8006T>C (n.687-8006T>C) c.1325T>C (p.Met442Thr) n.2562T>C n.995-2509T>C | dbSNP gnomAD v4 |
| 9 | g.133436857T>G | CA375391521 | ADAMTS13 | c.1337T>G (p.Met446Arg) c.1244T>G (p.Met415Arg) c.593T>G (p.Met198Arg) c.*141T>G (n.*141T>G) n.974-2509T>G c.*621T>G (n.*621T>G) n.993-2509T>G c.947T>G (p.Met316Arg) c.353T>G (p.Met118Arg) c.347T>G (p.Met116Arg) c.2T>G (p.Met1Arg) c.123T>G (p.His41Gln) c.687-8006T>G (n.687-8006T>G) c.1325T>G (p.Met442Arg) n.2562T>G n.995-2509T>G | |
| 9 | g.133436857T= | CA1882673120 | ADAMTS13 | c.1337T= (p.Met446=) c.1244T= (p.Met415=) c.593T= (p.Met198=) c.*141T= (n.*141T=) n.974-2509T= c.*621T= (n.*621T=) n.993-2509T= c.947T= (p.Met316=) c.353T= (p.Met118=) c.347T= (p.Met116=) c.2T= (p.Met1=) c.123T= (p.His41=) c.687-8006T= (n.687-8006T=) c.1325T= (p.Met442=) n.2562T= n.995-2509T= | |
| 9 | g.133436858G>A | CA200929591 | ADAMTS13 | c.1338G>A (p.Met446Ile) c.1245G>A (p.Met415Ile) c.594G>A (p.Met198Ile) c.*142G>A (n.*142G>A) n.974-2508G>A c.*622G>A (n.*622G>A) n.993-2508G>A c.948G>A (p.Met316Ile) c.354G>A (p.Met118Ile) c.348G>A (p.Met116Ile) c.3G>A (p.Met1Ile) c.124G>A (p.Val42Ile) c.687-8005G>A (n.687-8005G>A) c.1326G>A (p.Met442Ile) n.2563G>A n.995-2508G>A | dbSNP gnomAD v4 |
| 9 | g.133436858G>C | CA375391523 | ADAMTS13 | c.1338G>C (p.Met446Ile) c.1245G>C (p.Met415Ile) c.594G>C (p.Met198Ile) c.*142G>C (n.*142G>C) n.974-2508G>C c.*622G>C (n.*622G>C) n.993-2508G>C c.948G>C (p.Met316Ile) c.354G>C (p.Met118Ile) c.348G>C (p.Met116Ile) c.3G>C (p.Met1Ile) c.124G>C (p.Val42Leu) c.687-8005G>C (n.687-8005G>C) c.1326G>C (p.Met442Ile) n.2563G>C n.995-2508G>C | gnomAD v4 |
| 9 | g.133436858G= | CA1882673121 | ADAMTS13 | c.1338G= (p.Met446=) c.1245G= (p.Met415=) c.594G= (p.Met198=) c.*142G= (n.*142G=) n.974-2508G= c.*622G= (n.*622G=) n.993-2508G= c.948G= (p.Met316=) c.354G= (p.Met118=) c.348G= (p.Met116=) c.3G= (p.Met1=) c.124G= (p.Val42=) c.687-8005G= (n.687-8005G=) c.1326G= (p.Met442=) n.2563G= n.995-2508G= | |
| 9 | g.133436858G>T | CA200929592 | ADAMTS13 | c.1338G>T (p.Met446Ile) c.1245G>T (p.Met415Ile) c.594G>T (p.Met198Ile) c.*142G>T (n.*142G>T) n.974-2508G>T c.*622G>T (n.*622G>T) n.993-2508G>T c.948G>T (p.Met316Ile) c.354G>T (p.Met118Ile) c.348G>T (p.Met116Ile) c.3G>T (p.Met1Ile) c.124G>T (p.Val42Phe) c.687-8005G>T (n.687-8005G>T) c.1326G>T (p.Met442Ile) n.2563G>T n.995-2508G>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436859T>A | CA375391525 | ADAMTS13 | c.1339T>A (p.Ser447Thr) c.1246T>A (p.Ser416Thr) c.595T>A (p.Ser199Thr) c.*143T>A (n.*143T>A) n.974-2507T>A c.*623T>A (n.*623T>A) n.993-2507T>A c.949T>A (p.Ser317Thr) c.355T>A (p.Ser119Thr) c.349T>A (p.Ser117Thr) c.4T>A (p.Ser2Thr) c.125T>A (p.Val42Asp) c.687-8004T>A (n.687-8004T>A) c.1327T>A (p.Ser443Thr) n.2564T>A n.995-2507T>A | gnomAD v4 |
| 9 | g.133436859T>C | CA375391527 | ADAMTS13 | c.1339T>C (p.Ser447Pro) c.1246T>C (p.Ser416Pro) c.595T>C (p.Ser199Pro) c.*143T>C (n.*143T>C) n.974-2507T>C c.*623T>C (n.*623T>C) n.993-2507T>C c.949T>C (p.Ser317Pro) c.355T>C (p.Ser119Pro) c.349T>C (p.Ser117Pro) c.4T>C (p.Ser2Pro) c.125T>C (p.Val42Ala) c.687-8004T>C (n.687-8004T>C) c.1327T>C (p.Ser443Pro) n.2564T>C n.995-2507T>C | gnomAD v4 |
| 9 | g.133436859T>G | CA375391529 | ADAMTS13 | c.1339T>G (p.Ser447Ala) c.1246T>G (p.Ser416Ala) c.595T>G (p.Ser199Ala) c.*143T>G (n.*143T>G) n.974-2507T>G c.*623T>G (n.*623T>G) n.993-2507T>G c.949T>G (p.Ser317Ala) c.355T>G (p.Ser119Ala) c.349T>G (p.Ser117Ala) c.4T>G (p.Ser2Ala) c.125T>G (p.Val42Gly) c.687-8004T>G (n.687-8004T>G) c.1327T>G (p.Ser443Ala) n.2564T>G n.995-2507T>G | |
| 9 | g.133436860C>A | CA375391531 | ADAMTS13 | c.1340C>A (p.Ser447Ter) c.1247C>A (p.Ser416Ter) c.596C>A (p.Ser199Ter) c.*144C>A (n.*144C>A) n.974-2506C>A c.*624C>A (n.*624C>A) n.993-2506C>A c.950C>A (p.Ser317Ter) c.356C>A (p.Ser119Ter) c.350C>A (p.Ser117Ter) c.5C>A (p.Ser2Ter) c.126C>A (p.Val42=) c.687-8003C>A (n.687-8003C>A) c.1328C>A (p.Ser443Ter) n.2565C>A n.995-2506C>A | gnomAD v4 |
| 9 | g.133436860C= | CA1882673122 | ADAMTS13 | c.1340C= (p.Ser447=) c.1247C= (p.Ser416=) c.596C= (p.Ser199=) c.*144C= (n.*144C=) n.974-2506C= c.*624C= (n.*624C=) n.993-2506C= c.950C= (p.Ser317=) c.356C= (p.Ser119=) c.350C= (p.Ser117=) c.5C= (p.Ser2=) c.126C= (p.Val42=) c.687-8003C= (n.687-8003C=) c.1328C= (p.Ser443=) n.2565C= n.995-2506C= | |
| 9 | g.133436860C>G | CA375391532 | ADAMTS13 | c.1340C>G (p.Ser447Trp) c.1247C>G (p.Ser416Trp) c.596C>G (p.Ser199Trp) c.*144C>G (n.*144C>G) n.974-2506C>G c.*624C>G (n.*624C>G) n.993-2506C>G c.950C>G (p.Ser317Trp) c.356C>G (p.Ser119Trp) c.350C>G (p.Ser117Trp) c.5C>G (p.Ser2Trp) c.126C>G (p.Val42=) c.687-8003C>G (n.687-8003C>G) c.1328C>G (p.Ser443Trp) n.2565C>G n.995-2506C>G | |
| 9 | g.133436860C>T | CA200929593 | ADAMTS13 | c.1340C>T (p.Ser447Leu) c.1247C>T (p.Ser416Leu) c.596C>T (p.Ser199Leu) c.*144C>T (n.*144C>T) n.974-2506C>T c.*624C>T (n.*624C>T) n.993-2506C>T c.950C>T (p.Ser317Leu) c.356C>T (p.Ser119Leu) c.350C>T (p.Ser117Leu) c.5C>T (p.Ser2Leu) c.126C>T (p.Val42=) c.687-8003C>T (n.687-8003C>T) c.1328C>T (p.Ser443Leu) n.2565C>T n.995-2506C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436861G>A | CA10632751 | ADAMTS13 | c.1341G>A (p.Ser447=) c.1248G>A (p.Ser416=) c.597G>A (p.Ser199=) c.*145G>A (n.*145G>A) n.974-2505G>A c.*625G>A (n.*625G>A) n.993-2505G>A c.951G>A (p.Ser317=) c.357G>A (p.Ser119=) c.351G>A (p.Ser117=) c.6G>A (p.Ser2=) c.127G>A (p.Ala43Thr) c.687-8002G>A (n.687-8002G>A) c.1329G>A (p.Ser443=) n.2566G>A n.995-2505G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436861G>C | CA200929597 | ADAMTS13 | c.1341G>C (p.Ser447=) c.1248G>C (p.Ser416=) c.597G>C (p.Ser199=) c.*145G>C (n.*145G>C) n.974-2505G>C c.*625G>C (n.*625G>C) n.993-2505G>C c.951G>C (p.Ser317=) c.357G>C (p.Ser119=) c.351G>C (p.Ser117=) c.6G>C (p.Ser2=) c.127G>C (p.Ala43Pro) c.687-8002G>C (n.687-8002G>C) c.1329G>C (p.Ser443=) n.2566G>C n.995-2505G>C | dbSNP gnomAD v4 |
| 9 | g.133436861G= | CA1882673123 | ADAMTS13 | c.1341G= (p.Ser447=) c.1248G= (p.Ser416=) c.597G= (p.Ser199=) c.*145G= (n.*145G=) n.974-2505G= c.*625G= (n.*625G=) n.993-2505G= c.951G= (p.Ser317=) c.357G= (p.Ser119=) c.351G= (p.Ser117=) c.6G= (p.Ser2=) c.127G= (p.Ala43=) c.687-8002G= (n.687-8002G=) c.1329G= (p.Ser443=) n.2566G= n.995-2505G= | |
| 9 | g.133436861G>T | CA860755494 | ADAMTS13 | c.1341G>T (p.Ser447=) c.1248G>T (p.Ser416=) c.597G>T (p.Ser199=) c.*145G>T (n.*145G>T) n.974-2505G>T c.*625G>T (n.*625G>T) n.993-2505G>T c.951G>T (p.Ser317=) c.357G>T (p.Ser119=) c.351G>T (p.Ser117=) c.6G>T (p.Ser2=) c.127G>T (p.Ala43Ser) c.687-8002G>T (n.687-8002G>T) c.1329G>T (p.Ser443=) n.2566G>T n.995-2505G>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436862del | CA2692371084 | ADAMTS13 | c.1342del (p.Gln448AsnfsTer?) c.1249del (p.Gln417AsnfsTer?) c.598del (p.Gln200AsnfsTer?) c.*146del (n.*146del) n.974-2504del c.*626del (n.*626del) n.993-2504del c.952del (p.Gln318AsnfsTer?) c.358del (p.Gln120AsnfsTer?) c.352del (p.Gln118AsnfsTer?) c.7del (p.Gln3AsnfsTer?) c.128del (p.Ala43GlufsTer?) c.687-8001del (n.687-8001del) c.1330del (p.Gln444AsnfsTer?) n.2567del n.995-2504del | gnomAD v4 |
| 9 | g.133436862C>A | CA375391537 | ADAMTS13 | c.1342C>A (p.Gln448Lys) c.1249C>A (p.Gln417Lys) c.598C>A (p.Gln200Lys) c.*146C>A (n.*146C>A) n.974-2504C>A c.*626C>A (n.*626C>A) n.993-2504C>A c.952C>A (p.Gln318Lys) c.358C>A (p.Gln120Lys) c.352C>A (p.Gln118Lys) c.7C>A (p.Gln3Lys) c.128C>A (p.Ala43Glu) c.687-8001C>A (n.687-8001C>A) c.1330C>A (p.Gln444Lys) n.2567C>A n.995-2504C>A | dbSNP gnomAD v4 |
| 9 | g.133436862C= | CA1882673124 | ADAMTS13 | c.1342C= (p.Gln448=) c.1249C= (p.Gln417=) c.598C= (p.Gln200=) c.*146C= (n.*146C=) n.974-2504C= c.*626C= (n.*626C=) n.993-2504C= c.952C= (p.Gln318=) c.358C= (p.Gln120=) c.352C= (p.Gln118=) c.7C= (p.Gln3=) c.128C= (p.Ala43=) c.687-8001C= (n.687-8001C=) c.1330C= (p.Gln444=) n.2567C= n.995-2504C= | |
| 9 | g.133436862C>G | CA358426 | ADAMTS13 | c.1342C>G (p.Gln448Glu) c.1249C>G (p.Gln417Glu) c.598C>G (p.Gln200Glu) c.*146C>G (n.*146C>G) n.974-2504C>G c.*626C>G (n.*626C>G) n.993-2504C>G c.952C>G (p.Gln318Glu) c.358C>G (p.Gln120Glu) c.352C>G (p.Gln118Glu) c.7C>G (p.Gln3Glu) c.128C>G (p.Ala43Gly) c.687-8001C>G (n.687-8001C>G) c.1330C>G (p.Gln444Glu) n.2567C>G n.995-2504C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.[133436862C>G;133437836G>A] | CA645372491 | ADAMTS13 | c.[1342C>G;1523G>A] (p.[Gln448Glu;Cys508Tyr]) c.[1249C>G;1430G>A] (p.[Gln417Glu;Cys477Tyr]) c.[598C>G;779G>A] (p.[Gln200Glu;Cys260Tyr]) c.[*146C>G;*327G>A] (n.[*146C>G;*327G>A]) n.[974-2504C>G;974-1530G>A] c.[*626C>G;*807G>A] (n.[*626C>G;*807G>A]) n.[993-2504C>G;993-1530G>A] c.[952C>G;1133G>A] (p.[Gln318Glu;Cys378Tyr]) c.[358C>G;539G>A] (p.[Gln120Glu;Cys180Tyr]) c.[352C>G;533G>A] (p.[Gln118Glu;Cys178Tyr]) c.[7C>G;188G>A] (p.[Gln3Glu;Cys63Tyr]) c.[128C>G;309G>A] (p.[Ala43Gly;Val103=]) c.[687-8001C>G;687-7027G>A] (n.[687-8001C>G;687-7027G>A]) c.[1330C>G;1511G>A] (p.[Gln444Glu;Cys504Tyr]) n.[2567C>G;2748G>A] n.[995-2504C>G;995-1530G>A] | |
| 9 | g.133436862C>T | CA375391540 | ADAMTS13 | c.1342C>T (p.Gln448Ter) c.1249C>T (p.Gln417Ter) c.598C>T (p.Gln200Ter) c.*146C>T (n.*146C>T) n.974-2504C>T c.*626C>T (n.*626C>T) n.993-2504C>T c.952C>T (p.Gln318Ter) c.358C>T (p.Gln120Ter) c.352C>T (p.Gln118Ter) c.7C>T (p.Gln3Ter) c.128C>T (p.Ala43Val) c.687-8001C>T (n.687-8001C>T) c.1330C>T (p.Gln444Ter) n.2567C>T n.995-2504C>T | gnomAD v4 |
| 9 | g.133436863A= | CA1882673125 | ADAMTS13 | c.1343A= (p.Gln448=) c.1250A= (p.Gln417=) c.599A= (p.Gln200=) c.*147A= (n.*147A=) n.974-2503A= c.*627A= (n.*627A=) n.993-2503A= c.953A= (p.Gln318=) c.359A= (p.Gln120=) c.353A= (p.Gln118=) c.8A= (p.Gln3=) c.129A= (p.Ala43=) c.687-8000A= (n.687-8000A=) c.1331A= (p.Gln444=) n.2568A= n.995-2503A= | |
| 9 | g.133436863A>C | CA375391542 | ADAMTS13 | c.1343A>C (p.Gln448Pro) c.1250A>C (p.Gln417Pro) c.599A>C (p.Gln200Pro) c.*147A>C (n.*147A>C) n.974-2503A>C c.*627A>C (n.*627A>C) n.993-2503A>C c.953A>C (p.Gln318Pro) c.359A>C (p.Gln120Pro) c.353A>C (p.Gln118Pro) c.8A>C (p.Gln3Pro) c.129A>C (p.Ala43=) c.687-8000A>C (n.687-8000A>C) c.1331A>C (p.Gln444Pro) n.2568A>C n.995-2503A>C | dbSNP |
| 9 | g.133436863A>G | CA375391546 | ADAMTS13 | c.1343A>G (p.Gln448Arg) c.1250A>G (p.Gln417Arg) c.599A>G (p.Gln200Arg) c.*147A>G (n.*147A>G) n.974-2503A>G c.*627A>G (n.*627A>G) n.993-2503A>G c.953A>G (p.Gln318Arg) c.359A>G (p.Gln120Arg) c.353A>G (p.Gln118Arg) c.8A>G (p.Gln3Arg) c.129A>G (p.Ala43=) c.687-8000A>G (n.687-8000A>G) c.1331A>G (p.Gln444Arg) n.2568A>G n.995-2503A>G | gnomAD v4 |
| 9 | g.133436863A>T | CA375391544 | ADAMTS13 | c.1343A>T (p.Gln448Leu) c.1250A>T (p.Gln417Leu) c.599A>T (p.Gln200Leu) c.*147A>T (n.*147A>T) n.974-2503A>T c.*627A>T (n.*627A>T) n.993-2503A>T c.953A>T (p.Gln318Leu) c.359A>T (p.Gln120Leu) c.353A>T (p.Gln118Leu) c.8A>T (p.Gln3Leu) c.129A>T (p.Ala43=) c.687-8000A>T (n.687-8000A>T) c.1331A>T (p.Gln444Leu) n.2568A>T n.995-2503A>T | |
| 9 | g.133436864A>C | CA375391548 | ADAMTS13 | c.1344A>C (p.Gln448His) c.1251A>C (p.Gln417His) c.600A>C (p.Gln200His) c.*148A>C (n.*148A>C) n.974-2502A>C c.*628A>C (n.*628A>C) n.993-2502A>C c.954A>C (p.Gln318His) c.360A>C (p.Gln120His) c.354A>C (p.Gln118His) c.9A>C (p.Gln3His) c.130A>C (p.Thr44Pro) c.687-7999A>C (n.687-7999A>C) c.1332A>C (p.Gln444His) n.2569A>C n.995-2502A>C | |
| 9 | g.133436864A>T | CA375391550 | ADAMTS13 | c.1344A>T (p.Gln448His) c.1251A>T (p.Gln417His) c.600A>T (p.Gln200His) c.*148A>T (n.*148A>T) n.974-2502A>T c.*628A>T (n.*628A>T) n.993-2502A>T c.954A>T (p.Gln318His) c.360A>T (p.Gln120His) c.354A>T (p.Gln118His) c.9A>T (p.Gln3His) c.130A>T (p.Thr44Ser) c.687-7999A>T (n.687-7999A>T) c.1332A>T (p.Gln444His) n.2569A>T n.995-2502A>T | |
| 9 | g.133436865C>A | CA375391552 | ADAMTS13 | c.1345C>A (p.Gln449Lys) c.1252C>A (p.Gln418Lys) c.601C>A (p.Gln201Lys) c.*149C>A (n.*149C>A) n.974-2501C>A c.*629C>A (n.*629C>A) n.993-2501C>A c.955C>A (p.Gln319Lys) c.361C>A (p.Gln121Lys) c.355C>A (p.Gln119Lys) c.10C>A (p.Gln4Lys) c.131C>A (p.Thr44Lys) c.687-7998C>A (n.687-7998C>A) c.1333C>A (p.Gln445Lys) n.2570C>A n.995-2501C>A | gnomAD v4 |
| 9 | g.133436865C= | CA1882673126 | ADAMTS13 | c.1345C= (p.Gln449=) c.1252C= (p.Gln418=) c.601C= (p.Gln201=) c.*149C= (n.*149C=) n.974-2501C= c.*629C= (n.*629C=) n.993-2501C= c.955C= (p.Gln319=) c.361C= (p.Gln121=) c.355C= (p.Gln119=) c.10C= (p.Gln4=) c.131C= (p.Thr44=) c.687-7998C= (n.687-7998C=) c.1333C= (p.Gln445=) n.2570C= n.995-2501C= | |
| 9 | g.133436865C>G | CA375391554 | ADAMTS13 | c.1345C>G (p.Gln449Glu) c.1252C>G (p.Gln418Glu) c.601C>G (p.Gln201Glu) c.*149C>G (n.*149C>G) n.974-2501C>G c.*629C>G (n.*629C>G) n.993-2501C>G c.955C>G (p.Gln319Glu) c.361C>G (p.Gln121Glu) c.355C>G (p.Gln119Glu) c.10C>G (p.Gln4Glu) c.131C>G (p.Thr44Arg) c.687-7998C>G (n.687-7998C>G) c.1333C>G (p.Gln445Glu) n.2570C>G n.995-2501C>G | dbSNP gnomAD v4 |
| 9 | g.133436865C>T | CA117772 | ADAMTS13 | c.1345C>T (p.Gln449Ter) c.1252C>T (p.Gln418Ter) c.601C>T (p.Gln201Ter) c.*149C>T (n.*149C>T) n.974-2501C>T c.*629C>T (n.*629C>T) n.993-2501C>T c.955C>T (p.Gln319Ter) c.361C>T (p.Gln121Ter) c.355C>T (p.Gln119Ter) c.10C>T (p.Gln4Ter) c.131C>T (p.Thr44Ile) c.687-7998C>T (n.687-7998C>T) c.1333C>T (p.Gln445Ter) n.2570C>T n.995-2501C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436866A= | CA1882673127 | ADAMTS13 | c.1346A= (p.Gln449=) c.1253A= (p.Gln418=) c.602A= (p.Gln201=) c.*150A= (n.*150A=) n.974-2500A= c.*630A= (n.*630A=) n.993-2500A= c.956A= (p.Gln319=) c.362A= (p.Gln121=) c.356A= (p.Gln119=) c.11A= (p.Gln4=) c.132A= (p.Thr44=) c.687-7997A= (n.687-7997A=) c.1334A= (p.Gln445=) n.2571A= n.995-2500A= | |
| 9 | g.133436866A>C | CA375391558 | ADAMTS13 | c.1346A>C (p.Gln449Pro) c.1253A>C (p.Gln418Pro) c.602A>C (p.Gln201Pro) c.*150A>C (n.*150A>C) n.974-2500A>C c.*630A>C (n.*630A>C) n.993-2500A>C c.956A>C (p.Gln319Pro) c.362A>C (p.Gln121Pro) c.356A>C (p.Gln119Pro) c.11A>C (p.Gln4Pro) c.132A>C (p.Thr44=) c.687-7997A>C (n.687-7997A>C) c.1334A>C (p.Gln445Pro) n.2571A>C n.995-2500A>C | |
| 9 | g.133436866A>G | CA375391559 | ADAMTS13 | c.1346A>G (p.Gln449Arg) c.1253A>G (p.Gln418Arg) c.602A>G (p.Gln201Arg) c.*150A>G (n.*150A>G) n.974-2500A>G c.*630A>G (n.*630A>G) n.993-2500A>G c.956A>G (p.Gln319Arg) c.362A>G (p.Gln121Arg) c.356A>G (p.Gln119Arg) c.11A>G (p.Gln4Arg) c.132A>G (p.Thr44=) c.687-7997A>G (n.687-7997A>G) c.1334A>G (p.Gln445Arg) n.2571A>G n.995-2500A>G | dbSNP |
| 9 | g.133436866A>T | CA375391561 | ADAMTS13 | c.1346A>T (p.Gln449Leu) c.1253A>T (p.Gln418Leu) c.602A>T (p.Gln201Leu) c.*150A>T (n.*150A>T) n.974-2500A>T c.*630A>T (n.*630A>T) n.993-2500A>T c.956A>T (p.Gln319Leu) c.362A>T (p.Gln121Leu) c.356A>T (p.Gln119Leu) c.11A>T (p.Gln4Leu) c.132A>T (p.Thr44=) c.687-7997A>T (n.687-7997A>T) c.1334A>T (p.Gln445Leu) n.2571A>T n.995-2500A>T |