Table 1.
No. patients | Mutation | Domain | % |
---|---|---|---|
646 | P2514fs*4 | PEST | 78.78 |
35 | c.*7668+371 A>G | UTR | 4.2 |
14 | Q2444* | PEST | 1.7 |
10 | L2482fs*1 | PEST | 1.2 |
10 | c.*7668+378 A>G | UTR | 1.2 |
6 | Q2503* | PEST | 0.73 |
5 | Q2394* | PEST | 0.61 |
4 | Q2440* | PEST | 0.48 |
4 | Q2501* | PEST | 0.48 |
3 | S2336fs*12 | TAD | 0.36 |
3 | S2341fs*14 | TAD | 0.36 |
3 | Q2404* | PEST | 0.36 |
3 | A2463fs*14 | PEST | 0.36 |
3 | F2481fs*2 | PEST | 0.36 |
3 | Q2519* | PEST | 0.36 |
2 | Q2403* | PEST | 0.24 |
2 | Q2406* | PEST | 0.24 |
2 | Q2409* | PEST | 0.24 |
2 | P2415fs*82 | PEST | 0.24 |
2 | Q2416HT | PEST | 0.24 |
2 | Q2416* | PEST | 0.24 |
2 | V2421* | PEST | 0.24 |
2 | Q2459* | PEST | 0.24 |
2 | S2470fs*1 | PEST | 0.24 |
2 | V2476* | PEST | 0.24 |
2 | A2478fs*6 | PEST | 0.24 |
2 | c.*7668+380 A>C | UTR | 0.24 |
1 | R2070W | ANK | 0.12 |
1 | R2104H | ANK | 0.12 |
1 | L2124fs*113 | ANK | 0.12 |
1 | S2163del121 | TAD | 0.12 |
1 | K2181fs*61 | TAD | 0.12 |
1 | P2199fs*44 | TAD | 0.12 |
1 | V2200fs*45 | TAD | 0.12 |
1 | D2201fs*41 | TAD | 0.12 |
1 | E2267fs*86 | TAD | 0.12 |
1 | S2274fs*79 | TAD | 0.12 |
1 | S2329fs*24 | TAD | 0.12 |
1 | V2330fs*22 | TAD | 0.12 |
1 | L2335fs*12 | TAD | 0.12 |
1 | Q2391* | PEST | 0.12 |
1 | Q2395* | PEST | 0.12 |
1 | Q2398* | PEST | 0.12 |
1 | R2431 fs*4 | PEST | 0.12 |
1 | F2433fs*2 | PEST | 0.12 |
1 | L2434fs*1 | PEST | 0.12 |
1 | L2434* | PEST | 0.12 |
1 | P2438fs*36 | PEST | 0.12 |
1 | P2438fs*42 | PEST | 0.12 |
1 | S2449fs*28 | PEST | 0.12 |
1 | L2457V | PEST | 0.12 |
1 | E2460* | PEST | 0.12 |
1 | P2462fs*15 | PEST | 0.12 |
1 | P2465fs*13 | PEST | 0.12 |
1 | S2467* | PEST | 0.12 |
1 | S2467Y | PEST | 0.12 |
1 | S2467fs*6 | PEST | 0.12 |
1 | L2468fs*4 | PEST | 0.12 |
1 | T2477fs*6 | PEST | 0.12 |
1 | Q2480fs*3 | PEST | 0.12 |
1 | S2486* | PEST | 0.12 |
1 | Q2487* | PEST | 0.12 |
1 | S2492* | PEST | 0.12 |
1 | L2502V | PEST | 0.12 |
1 | Q2503fs*6 | PEST | 0.12 |
1 | E2506* | PEST | 0.12 |
1 | L2510 del9 res | PEST | 0.12 |
1 | T2511A | PEST | 0.12 |
1 | E2515* | PEST | 0.12 |
1 | W2520* | PEST | 0.12 |
1 | D2531fs*74 | PEST | 0.12 |